GPSM2 mutations in Chudley-McCullough syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2972-2973

  Diaz Horta, Oscar ^a   Sirmaci, Asli ^a   Doherty, Dan ^b   Nance, Walter ^c   Arnos, Kathleen ^d   Pandya, Arti ^c   Tekin, Mustafa ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^d Gallaudet University   (Colombia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN INTERVENTRICULAR FORAMEN; BRAIN MALFORMATION; CEREBELLUM DISEASE; CHUDLEY MCCULLOUGH SYNDROME; CISTERNA MAGNA; CONSANGUINEOUS MARRIAGE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GPSM2 GENE; HETEROTOPIA; HUMAN; HYDROCEPHALUS; HYPOPLASIA; MOLECULAR DIAGNOSIS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AGENESIS OF CORPUS CALLOSUM; ARACHNOID CYSTS; BASE SEQUENCE; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; PEDIGREE;

EID: 84867883164     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35636     Document Type: Article

References (7)

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