De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

American Journal of Human Genetics

Volumn 94, Issue 5, 2014, Pages 784-789

  Xia, Fan ^a   Bainbridge, Matthew N ^a   Tan, Tiong Yang ^b,c   Wangler, Michael F ^a,d   Scheuerle, Angela E ^e   Zackai, Elaine H ^f   Harr, Margaret H ^f   Sutton, V Reid ^a,d   Nalam, Roopa L ^a   Zhu, Wenmiao ^a   Nash, Margot ^b   Ryan, Monique M ^b   Yaplito Lee, Joy ^b   Hunter, Jill V ^d   Deardorff, Matthew A ^f   Penney, Samantha J ^a   Beaudet, Arthur L ^a   Plon, Sharon E ^a,d   Boerwinkle, Eric A ^a,g   Lupski, James R ^a,d   Eng, Christine M ^a   Muzny, Donna M ^a   Yang, Yaping ^a   Gibbs, Richard A ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d TEXAS CHILDREN S HOSPITAL   (United States)

^e Tesserae Genetics Texas   (United States)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^g UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AT HOOK DNA BINDING MOTIF CONTAINING 1 PROTEIN; DNA BINDING PROTEIN; UNCLASSIFIED DRUG; AT HOOK DNA BINDING MOFIT CONTAINING 1; PROTEIN;

ARTICLE; AT HOOK MOTIF; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DNA SEQUENCE; FACE DYSMORPHIA; FACIES; FAILURE TO THRIVE; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SLEEP DISORDERED BREATHING; SPEECH DELAY; UPPER RESPIRATORY TRACT OBSTRUCTION; GENE MUTATION; INFANT;

CHILD; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; EXOME; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; LANGUAGE DEVELOPMENT DISORDERS; MALE; MUSCLE HYPOTONIA; MUTATION; SLEEP APNEA SYNDROMES; SYNDROME;

EID: 84899806077     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.04.006     Document Type: Article

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