Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

American Journal of Human Genetics

Volumn 83, Issue 6, 2008, Pages 684-691

  Alazami, Anas M ^a   Al Saif, Amr ^a   Al Semari, Abdulaziz ^a   Bohlega, Saeed ^a   Zlitni, Soumaya ^a   Alzahrani, Fatema ^a   Bavi, Prashant ^a   Kaya, Namik ^a   Colak, Dilek ^a   Khalak, Hanif ^a   Baltus, Andy ^b   Peterlin, Borut ^c   Danda, Sumita ^d   Bhatia, Kailash P ^e   Schneider, Susanne A ^e   Sakati, Nadia ^a   Walsh, Christopher A ^b   Al Mohanna, Futwan ^a   Meyer, Brian ^a   Alkuraya, Fowzan S ^a,b,f  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^d CHRISTIAN MEDICAL COLLEGE   (India)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR PROTEIN;

ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; C2ORF37 GENE; DIABETES MELLITUS; EXTRAPYRAMIDAL SYNDROME; FEMALE; FOUNDER EFFECT; GENE; GENE DELETION; HUMAN; HUMAN CELL; HYPOGONADISM; LOSS OF FUNCTION MUTATION; LYMPHOBLAST; MALE; MENTAL DEFICIENCY; NUCLEOLUS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; WOODHOUSE SAKATI SYNDROME;

ALOPECIA; AMINO ACID SEQUENCE; BASAL GANGLIA DISEASES; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 2; CONSERVED SEQUENCE; DIABETES MELLITUS; FEMALE; GENES, RECESSIVE; GENOME, HUMAN; HAPLOTYPES; HOMOZYGOTE; HUMANS; HYPOGONADISM; LINKAGE (GENETICS); LOD SCORE; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; OPEN READING FRAMES; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SYNDROME;

EID: 57049100876     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.10.018     Document Type: Article

References (13)

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