Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?-Reference-Cited by-同舟云学术

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Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

Published:2017-09-10 Issue:11 Volume:173 Page:2898-2905
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Baas Martijn¹,Potuijt Jacob W.P.¹^ORCID,Hovius Steven E.R.¹,Hoogeboom A. Jeannette M.²,Galjaard Robert-Jan H.²,van Nieuwenhoven Christianne A.¹

Affiliation:

1. Department of Plastic and Reconstructive Surgery and Hand Surgery; Erasmus MC; University Medical Center Rotterdam; Rotterdam The Netherlands

2. Department of Clinical Genetics; Erasmus MC; University Medical Center Rotterdam; Rotterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. The pathogenesis of ulnar polydactyly in humans;Al-Qattan;Journal of Hand Surgery, European Volume,2013

2. Type II familial synpolydactyly: Report on two families with an emphasis on variations of expression;Al-Qattan;European Journal of Human Genetics,2011

3. Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36;Balci;American Journal of Medical Genetics,1999

4. Shh pathway activation is present and required within the vertebrate limb bud apical ectodermal ridge for normal autopod patterning;Bouldin;Proceedings of the National Academy of Sciences of the United States of America,2010

5. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS;Farooq;European Journal of Human Genetics,2010

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neglected bilateral triphalangeal of the thumb delta type in adult case: A case report;International Journal of Surgery Case Reports;2024-01

2. A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report;BMC Medical Genomics;2020-11-20

3. Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes;Journal of Medical Genetics;2020-03-16

4. Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants;Cell;2020-03

5. A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome;Genetics in Medicine;2018-11

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