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Title: Report from the workshop on Pallister-Hall syndrome and related phenotypes

Abstract

A one day workshop was convened on the NIH campus on March 1, 1996, in Bethesda, Maryland to discuss emerging clinical and molecular information on Pallister-Hall syndrome (PHS) and related disorders. PHS is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations. The goals of the meeting were to update participants in the latest clinical and research findings in the disorder, review the history and evolution of the understanding of the phenotype, determine diagnostic criteria for PHS, and make recommendations for clinical evaluation of individuals affected by PHS. These topics were addressed by several speakers and data were displayed from several of the large pedigrees of autosomal dominant PHS. 37 refs., 4 tabs.

Authors:
; ;  [1]
  1. Johns Hopkins Univ., Baltimore, MD (United States); and others
Publication Date:
OSTI Identifier:
539204
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 65; Journal Issue: 1; Other Information: PBD: 2 Oct 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; GENETIC MAPPING; GENE MUTATIONS; DNA-CLONING; PATIENTS; HEREDITARY DISEASES; PHENOTYPE; SKELETAL DISEASES; UROGENITAL SYSTEM DISEASES; GENETICS; DIAGNOSIS; NMR IMAGING; DOMINANT MUTATIONS

Citation Formats

Biesecker, L G, Kang, Seongman, and Peters, K. Report from the workshop on Pallister-Hall syndrome and related phenotypes. United States: N. p., 1996. Web. doi:10.1002/(SICI)1096-8628(19961002)65:1<76::AID-AJMG12>3.0.CO;2-O.
Biesecker, L G, Kang, Seongman, & Peters, K. Report from the workshop on Pallister-Hall syndrome and related phenotypes. United States. doi:10.1002/(SICI)1096-8628(19961002)65:1<76::AID-AJMG12>3.0.CO;2-O.
Biesecker, L G, Kang, Seongman, and Peters, K. Wed . "Report from the workshop on Pallister-Hall syndrome and related phenotypes". United States. doi:10.1002/(SICI)1096-8628(19961002)65:1<76::AID-AJMG12>3.0.CO;2-O.
@article{osti_539204,
title = {Report from the workshop on Pallister-Hall syndrome and related phenotypes},
author = {Biesecker, L G and Kang, Seongman and Peters, K},
abstractNote = {A one day workshop was convened on the NIH campus on March 1, 1996, in Bethesda, Maryland to discuss emerging clinical and molecular information on Pallister-Hall syndrome (PHS) and related disorders. PHS is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations. The goals of the meeting were to update participants in the latest clinical and research findings in the disorder, review the history and evolution of the understanding of the phenotype, determine diagnostic criteria for PHS, and make recommendations for clinical evaluation of individuals affected by PHS. These topics were addressed by several speakers and data were displayed from several of the large pedigrees of autosomal dominant PHS. 37 refs., 4 tabs.},
doi = {10.1002/(SICI)1096-8628(19961002)65:1<76::AID-AJMG12>3.0.CO;2-O},
journal = {American Journal of Medical Genetics},
number = 1,
volume = 65,
place = {United States},
year = {1996},
month = {10}
}