A new category of lethal short-limbed dwarfism
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference9 articles.
1. Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types
2. Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia
3. Family with probable achondrogenesis and lipid inclusions in fibroblasts
4. The role of mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia
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1. A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1 );American Journal of Medical Genetics Part A;2015-05-22
2. S;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007
3. Perinatally lethal, short-limbed dwarfism with distinct features-Schneckenbecken dysplasia;Ultrasound in Obstetrics and Gynecology;2004-08-16
4. “Snail-like pelvis” chondrodysplasia: A further case report;American Journal of Medical Genetics;1991-09-15
5. Fibrochondrogenesis in male twins at 24 weeks gestation;American Journal of Medical Genetics;1991-01-01
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