A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia-Reference-Cited by-同舟云学术

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A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia

Published:1986-09 Issue:1 Volume:25 Page:47-59
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Borochowitz Z.,Jones K. L.,Silbey R.,Adomian G.,Lachman R.,Rimoin D. L.,Opitz John M.,Reynolds James F.

Publisher

Wiley

Subject

Genetics(clinical)

Reference14 articles.

1. FAMILIAL THANATOPHORIC DWARFISM

2. Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types

Cited by 31 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. A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene;Molecular Syndromology;2023

2. A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree;American Journal of Medical Genetics Part A;2022-08-07

3. Congenital Disorders Caused by Defects in Anabolism of Glycosaminoglycans;Trends in Glycoscience and Glycotechnology;2020-03-25

4. A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia;Human Molecular Genetics;2019-08-19

5. Molecular asymmetry in the 8-cell stage Xenopus tropicalis embryo described by single blastomere transcript sequencing;Developmental Biology;2015-12

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