Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients-Reference-Cited by-同舟云学术

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Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients

Published:2002-09-18 Issue:2 Volume:117A Page:147-153
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nishimura Gen,Honma Tomomi,Shiihara Takashi,Manabe Noriyo,Nakajima Eiji,Adachi Masanori,Mikawa Makoto,Fukushima Yoshimitsu,Ikegawa Shiro

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL);Beighton;J Med Genet,1994

2. Sponastrime dysplasia: report of a male patient;Camera;Pediatr Radiol,1994

3. SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature;Cooper;Am J Med Genet,2000

4. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations;Hall;J Med Genet,1998

5. Sponastrime dysplasia: diagnostic criteria based on five new cases and review of nine previously published cases;Langer;Am J Med Genet,1996

Cited by 15 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. Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment;Journal of Bone and Mineral Research;2024-01-04

2. Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66‐year‐old man;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2023-05-24

3. New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report;Frontiers in Pediatrics;2022-12-21

4. Skeletal Dysplasias;Pediatric Orthopedic Deformities, Volume 1;2015-12-20

5. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation;Pediatric Radiology;2014-09-26

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