An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

European Journal of Human Genetics

Volumn 17, Issue 1, 2009, Pages 125-128

  Kahrizi, Kimia ^a   Najmabadi, Hossein ^a   Kariminejad, Roxana ^a   Jamali, Payman ^a   Malekpour, Mahdi ^a   Garshasbi, Masoud ^a,b   Ropers, Hans Hilger ^b   Kuss, Andreas Walter ^b   Tzschach, Andreas ^b  

^a UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ASIAN; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CATARACT; CHROMOSOME 4Q; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; FEMALE; GENE IDENTIFICATION; GENE MAPPING; GENETIC PREDISPOSITION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; HUMAN CELL; IRAN; IRIS COLOBOMA; JOINT CONTRACTURE; KYPHOSIS; LINKAGE ANALYSIS; LIP MALFORMATION; MALE; MENTAL DEFICIENCY; NOSE MALFORMATION; PRIORITY JOURNAL; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM;

CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; COLOBOMA; FAMILY; FEMALE; GENES, RECESSIVE; HAPLOTYPES; HUMANS; KYPHOSIS; LOD SCORE; MALE; MENTAL RETARDATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME;

EID: 57649193060     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.159     Document Type: Article

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