Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. -
AC Karaplis, A Luz, J Glowacki, RT Bronson, VL … - Genes & Development, 1994 - Cold Spring Harbor Lab
… by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia … -
MK Webster, PY D'Avis, SC Robertson, DJ Donoghue - Molecular and Cellular Biology, 1996 - pubmedcentral.nih.gov
... kinase activation of fibroblast growth factor receptor 3 by the activation loop
mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia ...
… Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, … -
Z Vajo, CA Francomano, DJ Wilkin - Endocrine Reviews, 2000 - Endocrine Soc
... 4 ), a skeletal dysplasia with features of both achondroplasia and TD, has been
added to this family of disorders (4). These other disorders in the ...
The birth prevalence rates for the skeletal dysplasias -
IM Orioli, EE Castilla, JG Barbosa-Neto - British Medical Journal, 1986 - jmg.bmj.com
... The most frequent types of skeletal dysplasia were achondroplasia, with a prevalence
rate between 0.5 and 1.5/10 000 births, the thanatophoric dysplasia ...
A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a … -
PL Tavormina, GA Bellus, MK Webster, MJ Bamshad, … - The American Journal of Human Genetics, 1999 - Elsevier
... A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is
Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene. ...
Smith's recognizable patterns of human malformation -
KL Jones - 1997 - intl.elsevierhealth.com
... Klinefelter Syndrome XXXY and XXXXY Syndromes XXX and XXXX Syndromes XXXXX Syndrome
45X Syndrome B. Very Small Stature, Not Skeletal Dysplasia Brachmann?De ...
Fetal Skeletal Dysplasia: Three-dimensional US-Initial Experience -
KV Garjian, DH Pretorius, NE Budorick, CJ Cantrell … - Radiology, 2000 - RSNA
... (Radiology. 2000;214:717-723.) ? RSNA, 2000 Obstetric Imaging. Fetal Skeletal
Dysplasia: Three-dimensional US-Initial Experience 1. ...
Morphologic studies in the skeletal dysplasias. -
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... Copyright notice. Morphologic studies in the skeletal dysplasias. DO Sillence, WA
Horton, and DL Rimoin. This article has been cited by other articles in PMC. ...
[CITATION] Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. -
H Taybi, RS Lachman, DF Merten - Investigative Radiology, 1993
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Birth prevalence rates of skeletal dysplasias. -
C Stoll, B Dott, MP Roth, Y Alembik - Clin Genet, 1989 - ncbi.nlm.nih.gov
... The most frequent types of skeletal dysplasia were achondroplasia and osteogenesis
imperfecta (0.64 0/000, 1/15,000 births), thanatophoric dysplasia and ...
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