Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (Q47839446)

6 February 2018

title

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (English)

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6 February 2018

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brachydactyly type B1

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Andrew Oliver Mungo Wilkie

inferred from title

author

10

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author name string

A R Afzal

1

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A Rajab

2

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C D Fenske

3

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6 February 2018

M Oldridge

4

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6 February 2018

N Elanko

5

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E Ternes-Pereira

6

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6 February 2018

B Tüysüz

7

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V A Murday

8

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M A Patton

9

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S Jeffery

11

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language of work or name

English

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publication date

1 August 2000

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6 February 2018

published in

Nature Genetics

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6 February 2018

volume

25

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issue

4

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page(s)

419-422

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https://scigraph.springernature.com/pub.10.1038/78107

exact match

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cites work

Autosomal recessive Robinow syndrome.

1 reference

7 January 2021

Recessive Robinow syndrome: with emphasis on endocrine functions

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7 January 2021

Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

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7 January 2021

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

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7 January 2021

Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation

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7 January 2021

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity

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7 January 2021

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

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7 January 2021

Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development

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7 January 2021

Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation

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7 January 2021

Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports

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7 January 2021

Dror, a potential neurotrophic receptor gene, encodes a Drosophila homolog of the vertebrate Ror family of Trk-related receptor tyrosine kinases

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7 January 2021

A novel Drosophila receptor tyrosine kinase expressed specifically in the nervous system. Unique structural features and implication in developmental signaling

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7 January 2021

A C. elegans Ror receptor tyrosine kinase regulates cell motility and asymmetric cell division

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7 January 2021

Nonsense-mediated mRNA decay in health and disease

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7 January 2021

Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease

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7 January 2021

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

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7 January 2021

The Frizzled CRD domain is conserved in diverse proteins including several receptor tyrosine kinases

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7 January 2021

The Wnt receptor CRD domain is also found in MuSK and related orphan receptor tyrosine kinases.

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7 January 2021

Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain

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7 January 2021

Genetic basis of endocrine disease. 1. Molecular genetics of insulin resistant diabetes mellitus.

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7 January 2021

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

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7 January 2021

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

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7 January 2021

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

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7 January 2021

The Robinow (fetal face) syndrome

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7 January 2021

Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type

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7 January 2021

Identifiers

DOI

10.1038/78107

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6 February 2018

PubMed ID

10932186

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6 February 2018