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James C. Hyland
James C. Hyland
Dominance (genetics)
Mutation
Biology
Compound heterozygosity
Chondrodysplasia punctata
3
Papers
22
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Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
2017
Clinical Case Reports
Kirsten Wood
Regina Zambrano
Bradley J. Cheek
Christopher Arcement
Marie Louise Haymon
Jessica Steinkampf
Srirangan Sampath
James C. Hyland
Yves Lacassie
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Citations (2)
Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
2007
Congenital Heart Disease
Jamie Sutherell
Yuri A. Zarate
Bradley T. Tinkle
Larry W. Markham
Linda H. Cripe
James C. Hyland
David P. Witte
Robert J. Hopkin
Robert B. Hinton
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Citations (15)
A dominantly inherited spondylometaphyseal dysplasia with “corner fractures” and congenital scoliosis
2005
American Journal of Medical Genetics Part A
V. Reid Sutton
James C. Hyland
William A. Phillips
Alan E Schlesinger
Paula W. Brill
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Citations (5)
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