Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome (Q24538670)

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A F Brady

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L A Brueton

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J P Fryns

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D P Mortlock

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J W Innis

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L B Holmes

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A E Donnenfeld

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M Feingold

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F A Beemer

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R C Hennekam

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P J Scambler

American Journal of Human Genetics

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language of work or name

English

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publication date

July 2000

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published in

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volume

67

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issue

1

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page(s)

197-202

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cites work

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

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Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families

24 March 2017

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Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

24 March 2017

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Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

24 March 2017

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Mutation of HOXA13 in hand-foot-genital syndrome

24 March 2017

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Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

24 March 2017

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Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13

24 March 2017

1 reference

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Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families

24 March 2017

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Synpolydactyly in mice with a targeted deficiency in the HoxD complex

24 March 2017

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The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation

24 March 2017

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Know your neighbors: three phenotypes in null mutants of the myogenic bHLH gene MRF4.

27 September 2017

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Homeodomain-DNA recognition

27 September 2017

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Crystal structure of a MAT alpha 2 homeodomain-operator complex suggests a general model for homeodomain-DNA interactions

27 September 2017

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A new family with the hand-foot-genital syndrome--a wider spectrum of the hamd-foot-uterus syndrome

27 September 2017

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Hoxa-13 and Hoxd-13 play a crucial role in the patterning of the limb autopod

27 September 2017

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The hand-foot-genital syndrome: on the variable expression in affected males.

27 September 2017

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The hand-foot-genital (hand-foot-uterus) syndrome: family report and update

30 May 2018

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Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli

30 May 2018

1 reference

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The hand-food-uterus syndrome: a new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract

29 November 2018

1 reference

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Acral-genital anomalies combined with ear anomalies

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287077

Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 protein

29 November 2018

1 reference

12 December 2020

Hand-foot-uterus-(HFU) syndrome with hypospadias: the hand-foot-genital- (HFG) syndrome

1 reference

12 December 2020

Heritable aspects of uterine anomalies. I. Three familial aggregates with Müllerian fusion anomalies

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12 December 2020

Urinary tract abnormalities in hand-foot-genital syndrome

1 reference

12 December 2020

Hand-foot-genital syndrome: the importance of hallux varus

1 reference

12 December 2020

Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation

1 reference

12 December 2020

Identifiers

DOI

10.1086/302961

1 reference

1 reference

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PubMed publication ID

10839976

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