Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia (Q42681575)

4 November 2017

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia (English)

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4 November 2017

8

Rimoin DL

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4 November 2017

5

Lachman RS

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4 November 2017

Wilcox WR

1

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4 November 2017

Tavormina PL

2

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4 November 2017

Krakow D

3

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4 November 2017

Kitoh H

4

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4 November 2017

Wasmuth JJ

6

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4 November 2017

Thompson LM

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4 November 2017

1 July 1998

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American Journal of Medical Genetics Part A

4 November 2017

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4 November 2017

78

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4 November 2017

3

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4 November 2017

274-281

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Long-term survival in typical thanatophoric dysplasia type 1.

4 November 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Neuropathologic findings in thanatophoric dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Abnormal ossification in thanatophoric dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Thanatophoric dysplasia with cloverleaf-skull. Case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Growth and development in thanatophoric dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Thanatophoric dysplasia: an autosomal dominant condition?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

The role of mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Craniosynostosis: genes and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Thanatophoric dysplasia and cloverleaf skull

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

Long survival in thanatophoric dwarfism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

An infant with thanatophoric dwarfism surviving 169 days

21 January 2018

1 reference

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Birth prevalence rates of skeletal dysplasias.

21 January 2018

1 reference

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Percentile ranks of sonar fetal abdominal circumference measurements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

A boy with thanatophoric dysplasia surviving 212 days

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

The gene for achondroplasia maps to the telomeric region of chromosome 4p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980707%2978%3A3%3C274%3A%3AAID-AJMG14%3E3.0.CO%3B2-C

10.1002/(SICI)1096-8628(19980707)78:3<274::AID-AJMG14>3.0.CO;2-C

21 January 2018

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DOI

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4 November 2017

1 reference