Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations-Reference-Cited by-同舟云学术

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations

Published:2017-03-03 Issue:6 Volume:173 Page:1663-1667
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gilman Jordana L.¹^ORCID,Newman Heather A.²,Freeman Rebecca²,Singh Kathryn E.²,Puckett Rebecca L.²,Morohashi David K.³,Stein Constance¹,Palomino Kathryn⁴,Lebel Robert Roger¹,Kimonis Virginia E.²

Affiliation:

1. Section of Medical Genetics; SUNY Upstate Medical University; Syracuse New York

2. Department of Pediatrics, Division of Genetic and Genomic Medicine; University of California; Irvine, Orange California

3. Division of Family Medicine, School of Medicine; University of California; Irvine California

4. Department of Orthopedic Surgery; SUNY Upstate Medical University; Syracuse New York

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38204/fullpdf

Reference18 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

2. Trichorhinophalangeal syndrome type 1: A case report with literature review;Candamourty;Journal of Natural Science, Biology and Medicine,2012

3. Hip pathology in the trichorhinophalangeal syndrome;Dunbar;Journal of Pediatric Orthopaedics,1995

4. Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area;Floris;European Journal of Human Genetics,2008

5. A Danish kindred with tricho-rhino-phalangeal syndrome type I;Gaardsted;European Journal of Pediatrics,1982

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2. Molecular foundations of the etiology and pathogenesis of Legg-Calve-Perthes disease and prospects for targeted therapy: A literature review;Pediatric Traumatology, Orthopaedics and Reconstructive Surgery;2022-09-22

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