Fragile X syndrome in two siblings with major congenital malformations

Philip F Giampietro; Bruce R Haas; Evelyn Lipper; Alyson Gutman; Nancy J Zellers; Gregory S LaTrenta; Susan Sklower Brooks; Reuben Matalon; Rajinder Kaul; Xiao-Hua Ding; W. Ted Brown

doi:10.1002/(SICI)1096-8628(19960517)63:2<396::AID-AJMG14>3.0.CO;2-F

Journal article

Fragile X syndrome in two siblings with major congenital malformations

Philip F Giampietro, Bruce R Haas, Evelyn Lipper, Alyson Gutman, Nancy J Zellers, Gregory S LaTrenta, Susan Sklower Brooks, Reuben Matalon, Rajinder Kaul, Xiao-Hua Ding, …

American journal of medical genetics, Vol.63(2), pp.396-400

05/17/1996

DOI: https://doi.org/10.1002/(SICI)1096-8628(19960517)63:2<396::AID-AJMG14>3.0.CO;2-F

PMID: 8725793

Abstract

fragile X syndrome

iduronate sulfatase

major congenital malformation

methylation mosaic

VACTERL-H syndrome

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4 Times Cited - Web of Science

Details

Title: Fragile X syndrome in two siblings with major congenital malformations
Creators: Philip F Giampietro - Division of Medical Genetics, Child Development Center and Craniofacial Center, New York Hospital, Cornell University Medical Center, New York
Bruce R Haas - Division of Medical Genetics, Child Development Center and Craniofacial Center, New York Hospital, Cornell University Medical Center, New York
Evelyn Lipper - Division of Medical Genetics, Child Development Center and Craniofacial Center, New York Hospital, Cornell University Medical Center, New York
Alyson Gutman - Division of Medical Genetics, Child Development Center and Craniofacial Center, New York Hospital, Cornell University Medical Center, New York
Nancy J Zellers - Division of Medical Genetics, Child Development Center and Craniofacial Center, New York Hospital, Cornell University Medical Center, New York
Gregory S LaTrenta - Division of Medical Genetics, Child Development Center and Craniofacial Center, New York Hospital, Cornell University Medical Center, New York
Susan Sklower Brooks - New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York
Reuben Matalon - Miami Children's Hospital, Miami, Florida
Rajinder Kaul - Miami Children's Hospital, Miami, Florida
Xiao-Hua Ding - New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York
W. Ted Brown - New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York
Publication Details: American journal of medical genetics, Vol.63(2), pp.396-400
Date published: 05/17/1996
Publisher: Wiley Subscription Services, Inc., A Wiley Company
Number of pages: 5
Academic Unit: Pediatrics - Medical Genetics (RWJMS)
Language: English
Resource Type: Journal article
Identifiers: 991031665696604646