Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay-Reference-Cited by-同舟云学术

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Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

Published:2018-11 Issue:5 Volume:103 Page:794-807
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Morimoto Marie,Waller-Evans Helen,Ammous Zineb,Song Xiaofei,Strauss Kevin A.,Pehlivan Davut,Gonzaga-Jauregui Claudia,Puffenberger Erik G.,Holst Charles R.,Karaca Ender,Brigatti Karlla W.,Maguire Emily,Coban-Akdemir Zeynep H.,Amagata Akiko,Lau C. Christopher,Chepa-Lotrea Xenia,Macnamara Ellen,Tos Tulay,Isikay Sedat,Nehrebecky Michele,Overton John D.,Klein Matthew,Markello Thomas C.,Posey Jennifer E.,Adams David R.,Lloyd-Evans Emyr,Lupski James R.,Gahl William A.,Malicdan May Christine V.

Funder

National Human Genome Research Institute

National Institutes of Health

Old Order Amish

Mennonite

EU Horizon 2020 BATcure

The Royal Society

NHGRI and National Heart, Lung, and Blood Institute

Niemann-Pick Research Foundation

NHGRI

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference52 articles.

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2. Calcium content of mitochondria and endoplasmic reticulum in liver frozen rapidly in vivo;Somlyo;Nature,1985

3. Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease;Odermatt;Nat. Genet.,1996

4. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease;Sakuntabhai;Nat. Genet.,1999

5. A mutation in the human ryanodine receptor gene associated with central core disease;Zhang;Nat. Genet.,1993

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1. CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia;American Journal of Medical Genetics Part A;2024-08-22

2. Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases;2024-08-07

3. Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant;Heliyon;2024-03

4. Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders;Molecular Neurobiology;2024-01-05

5. Defining the SPCA2C interactome identifies unique links to Store-Operated Ca²⁺Entry;2023-09-14

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