Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome-Reference-Cited by-同舟云学术

Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome

Published:2015-01-21 Issue:3 Volume:167 Page:617-620
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Li Mindy H.¹,Eberhard Moriah²,Mudd Pamela³,Javia Luv³,Zimmerman Robert⁴,Khalek Nahla²⁵,Zackai Elaine H.¹

Affiliation:

1. Division of Human Genetics; Department of Pediatrics; University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Center for Fetal Diagnosis and Treatment; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

3. Division of Pediatric Otolaryngology; Department of Otorhinolaryngology/Head and Neck Surgery; University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

4. Department of Radiology; University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

5. Department of Surgery; University of Pennsylvania Perelman School of Medicine; Philadelphia Pennsylvania

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

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3. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-a new syndrome? Part II: Neuropathological considerations;Clarren;Am J Med Genet,1980

4. Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus;Craig;Amer J Hum Genet,2008

5. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly-a new syndrome? Part I: Clinical, causal, and pathogenetic considerations;Hall;Am J Med Genet,1980

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