Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene

American Journal of Human Genetics

Volumn 72, Issue 2, 2003, Pages 419-428

  Cohn, Daniel H ^a,b   Ehtesham, Nadia ^a   Krakow, Deborah ^a,b   Unger, Sheila ^e   Shanske, Alan ^c   Reinker, Kent ^e   Powell, Berkley R ^d   Rimoin, David L ^a,b  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e SSB 3 Cedars Sinai Medical Center ^*

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ALLELE; ALLELIC IMBALANCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DEVELOPMENT; BRAIN FUNCTION; CHONDRODYSPLASIA; CHROMOSOME 18Q; CONSANGUINEOUS MARRIAGE; CONSENSUS SEQUENCE; DEVELOPMENTAL DISORDER; DYGGVE MELCHIOR CLAUSEN DYSPLASIA; EVOLUTION; EXON; FRAMESHIFT MUTATION; GENETIC CONSERVATION; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; NULL ALLELE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SKELETON MALFORMATION; SMITH MCCORT DYSPLASIA; STOP CODON;

EID: 0037317409     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/346176     Document Type: Article

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