Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings-Reference-Cited by-同舟云学术

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Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings

Published:2018-12-18 Issue:1 Volume:179 Page:123-129
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Azakli Hülya¹,Akkaya Ayse Deniz²,Aygün Murat Serhat³,Demirkesen Cüyan⁴,Eraslan Serpil¹,Kayserili Hülya¹^ORCID

Affiliation:

1. Medical Genetics Department; Koç University School of Medicine (KUSoM); İstanbul Turkey

2. Department of Dermatology; Koç University School of Medicine (KUSoM); İstanbul Turkey

3. Department of Radiology; Koç University School of Medicine (KUSoM); İstanbul Turkey

4. Department of Pathology; Acıbadem Mehmet Ali Aydınlar University School of Medicine; İstanbul Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.60686/fullpdf

Reference15 articles.

1. Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome;Bacino;American Journal of Medical Genetics,2000

2. Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family;Baroncini;American Journal of Medical Genetics Part A,2006

3. Terminal osseous dysplasia with pigmentary defects; case and brief review of filamin A-related disorders;Bhabha;Australian Journal of Dermatology,2016

4. Recurring digital fibroma of infancy;Bloem;The Journal of Bone and Joint Surgery,1974

5. Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations;Breuning;American Journal of Medical Genetics,2000

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1. Auricular fistula: a review of its clinical manifestations, genetics, and treatments;Journal of Molecular Medicine;2023-07-17

2. Interaction of LARP4 to filamin A mechanosensing domain regulates cell migrations;Frontiers in Cell and Developmental Biology;2023-04-24

3. The function and pathogenic mechanism of filamin A;Gene;2021-06

4. Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review;The Journal of Dermatology;2020-01-09

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