Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain-Reference-Cited by-同舟云学术

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Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain

Published:2019-06 Issue: Volume:123 Page:153-158
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Karaca Anara,Reyes Monica,Shumate Lauren T.,Taskaldiran Isilay,Omma Tulay,Ersoz Gulcelik Nese,Bastepe Murat

Funder

NIH

NIDDK

National Institutes of Health

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference38 articles.

1. Brachydactyly;Temtamy;Orphanet J. Rare Dis.,2008

2. Brachydactyly E: isolated or as a feature of a syndrome;Pereda;Orphanet J. Rare Dis.,2013

3. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E;Johnson;Am. J. Hum. Genet.,2003

4. Limb skeletal malformations - what the HOX is going on?;Brison;Eur. J. Med. Genet.,2012

5. A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly type E;Maass;Hum. Mol. Genet.,2010

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2. Cis‐regulatory control of mammalian Trps1 gene expression;Journal of Experimental Zoology Part B: Molecular and Developmental Evolution;2024-02-18

3. Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report;Children;2022-09-22

4. Functional mechanisms of TRPS1 in disease progression and its potential role in personalized medicine;Pathology - Research and Practice;2022-09

5. Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause;Experimental and Clinical Endocrinology & Diabetes;2019-12-11

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