Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy-Reference-Cited by-同舟云学术

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

Published:2015-09-23 Issue:1 Volume:170 Page:77-86
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Fleming Leah¹,Lemmon Monica²,Beck Natalie³⁴,Johnson Maria⁵,Mu Weiyi³,Murdock David¹,Bodurtha Joann³,Hoover-Fong Julie³⁴,Cohn Ronald⁶,Bosemani Thangamadhan⁷,Barañano Kristin²⁸,Hamosh Ada³

Affiliation:

1. NHGRI; Office of the Clinical Director; NIH; Bethesda Maryland

2. Department of Neurology; Johns Hopkins University; Baltimore Maryland

3. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University; Baltimore Maryland

4. Greenberg Center for Skeletal Dysplasia; Johns Hopkins University; Baltimore Maryland

5. Department of Neurology; University of Minnesota; Minneapolis Minnesota

6. The Hospital for Sick Children; Clinical and Metabolic Genetics; University of Toronto; Toronto Ontario Canada

7. Section of Pediatric Neuroradiology; Division of Pediatric Radiology; Johns Hopkins University; Baltimore Maryland

8. Division of Neurogenetics; Kennedy Krieger Institute; Baltimore Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37369/fullpdf

Reference25 articles.

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2. Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia;Brady;Eur J of Med Genet,2014

3. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay;Burnside;Hum Genet,2011

4. Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: Further delineation of an emerging syndrome;Cafferkey;Am J Med Genet Part A,2014

5. The genetic basis of DOORS syndrome: An exome-sequencing study;Campeau;Lancet Neuro,2014

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