Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

American Journal of Human Genetics

Volumn 97, Issue 3, 2015, Pages 457-464

  Tanaka, Akemi J ^a   Cho, Megan T ^b   Millan, Francisca ^b   Juusola, Jane ^b   Retterer, Kyle ^b   Joshi, Charuta ^c   Niyazov, Dmitriy ^d   Garnica, Adolfo ^e   Gratz, Edward ^f   Deardorff, Matthew ^g   Wilkins, Alisha ^g   Ortiz Gonzalez, Xilma ^h   Mathews, Katherine ^c   Panzer, Karin ^c   Brilstra, Eva ⁱ   Van Gassen, Koen L I ⁱ   Volker Touw, Catharina M L ⁱ   Van Binsbergen, Ellen ⁱ   Sobreira, Nara ^j   Hamosh, Ada ^j   McKnight, Dianalee ^b   Monaghan, Kristin G ^b   Chung, Wendy K ^a   more..

^a NewYork Presbyterian Hospital   (United States)

^b GENEDX   (United States)

^c UNIVERSITY OF IOWA CHILDREN S HOSPITAL   (United States)

^d OCHSNER CLINIC FOUNDATION   (United States)

^e ARKANSAS CHILDREN S HOSPITAL   (United States)

^f Gratz and Shafrir   (United States)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^j JOHNS HOPKINS UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CELL PROTEIN; GENOMIC DNA; SPERMATOGENESIS ASSOCIATED PROTEIN 5; UNCLASSIFIED DRUG; HOMEODOMAIN PROTEIN; SPATA5 PROTEIN, HUMAN;

ARTICLE; BRAIN DEVELOPMENT; CELL DIFFERENTIATION; CHILD; CLINICAL ARTICLE; EXOME; FEMALE; GENE EXPRESSION; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MORPHOGENESIS; MUSCLE HYPOTONIA; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEIZURE; SPASTICITY; SPERMATOGENESIS; VISUAL IMPAIRMENT; AMINO ACID SEQUENCE; DNA SEQUENCE; GENE FREQUENCY; GENETICS; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; RECESSIVE GENE; SEQUENCE ALIGNMENT;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; EXOME; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; HEARING LOSS; HOMEODOMAIN PROTEINS; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; SEIZURES; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 84941023581     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.07.014     Document Type: Article

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