Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies-Reference-Cited by-同舟云学术

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

Published:2016-11-26 Issue:3 Volume:173 Page:733-739
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Machol Keren¹,Jain Mahim¹,Almannai Mohammed¹,Orand Thibault¹,Lu James T.¹²,Tran Alyssa¹,Chen Yuqing¹,Schlesinger Alan³,Gibbs Richard¹²,Bonafe Luisa⁴,Campos-Xavier Ana Belinda⁴,Unger Sheila⁵,Superti-Furga Andrea⁵,Lee Brendan H.¹,Campeau Philippe M.⁶,Burrage Lindsay C.¹

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

2. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

3. Department of Pediatric Radiology; Texas Children's Hospital; Houston Texas

4. Centre for Molecular Diseases and Department of Pediatrics; Lausanne University Hospital (CHUV); University of Lausanne; Lausanne Switzerland

5. Service of Medical Genetics; Lausanne University Hospital (CHUV); Lausanne Switzerland

6. Department of Pediatrics; CHU Sainte-Justine; University of Montreal, Montreal; Quebec Canada

Funder

Baylor College of Medicine Intellectual and Developmental Disabilities Research Center

Eunice Kennedy Shriver National Institute of Child Health and Human Development

NIH

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype;Barat-Houari;Eur J Hum Genet,2016a

2. Mutation update for COL2A1 gene variants associated with type II Collagenopathies;Barat-Houari;Hum Mutat,2016b

3. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe;Am J Med Genet Part A,2015

4. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature;Briggs;Nat Genet,2011

5. Mutations in PCYT1A, Encoding a key regulator of Phosphatidylcholine metabolism, cause SMD with cone-rod dystrophy;Hoover-Fong;Am J Hum Genet,2014

Cited by 11 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. Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip;Frontiers in Genetics;2024-08-02

2. Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related;American Journal of Medical Genetics Part A;2023-11-08

3. Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family;Calcified Tissue International;2023-06-06

4. Skelettdysplasien;Orthopädie und Unfallchirurgie;2022

5. Radiologic Features of Type II and Type XI Collagenopathies;RadioGraphics;2021-01