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Geleophysic dysplasia.
Am J Med Genet. 1990 Feb; 35(2):153-6.AJ

Abstract

We describe 2 children with geleophasic dysplasia. Prominent cardiac disease in one of the patients caused death at an early age. The history of consanguinity in one of the families supports autosomal recessive mode of inheritance. Histological and ultrastructural changes suggest that a disturbance in the relations between cell membrane and extracellular matrix may be involved in the pathogenesis.

Authors+Show Affiliations

Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2090119

Citation

Wraith, J E., et al. "Geleophysic Dysplasia." American Journal of Medical Genetics, vol. 35, no. 2, 1990, pp. 153-6.
Wraith JE, Bankier A, Chow CW, et al. Geleophysic dysplasia. Am J Med Genet. 1990;35(2):153-6.
Wraith, J. E., Bankier, A., Chow, C. W., Danks, D. M., & Sardharwalla, I. B. (1990). Geleophysic dysplasia. American Journal of Medical Genetics, 35(2), 153-6.
Wraith JE, et al. Geleophysic Dysplasia. Am J Med Genet. 1990;35(2):153-6. PubMed PMID: 2090119.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Geleophysic dysplasia. AU - Wraith,J E, AU - Bankier,A, AU - Chow,C W, AU - Danks,D M, AU - Sardharwalla,I B, PY - 1990/2/1/pubmed PY - 1990/2/1/medline PY - 1990/2/1/entrez SP - 153 EP - 6 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 35 IS - 2 N2 - We describe 2 children with geleophasic dysplasia. Prominent cardiac disease in one of the patients caused death at an early age. The history of consanguinity in one of the families supports autosomal recessive mode of inheritance. Histological and ultrastructural changes suggest that a disturbance in the relations between cell membrane and extracellular matrix may be involved in the pathogenesis. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2090119/Geleophysic_dysplasia_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=35&issue=2&spage=153 DB - PRIME DP - Unbound Medicine ER -