Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies

Chang Gung Medical Journal

Volumn 28, Issue 9, 2005, Pages 643-650

  Hou, Jia Woei ^a  

^a CHANG GUNG CHILDREN S HOSPITAL   (Taiwan)

Author keywords

Chondrodysplasia punctata; Contiguous gene syndrome; Fluorescence in situ hybridization; Ichthyosis; Kallmann syndrome; Ocular albinism

Indexed keywords

STERYL SULFATASE;

ARTICLE; CHILD; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME ANALYSIS; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME XP; CLINICAL ARTICLE; CYTOGENETICS; FAMILY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; ICHTHYOSIS; KALLMANN SYNDROME; KARYOTYPE; MALE; MOTHER; OCULAR ALBINISM; PHENOTYPE; SIBLING; X CHROMOSOME LINKED DISORDER;

ALBINISM, OCULAR; CHILD; CHONDRODYSPLASIA PUNCTATA; CHROMOSOMES, HUMAN, X; FEMALE; GENE DELETION; HUMANS; ICHTHYOSIS; IN SITU HYBRIDIZATION, FLUORESCENCE; KALLMANN SYNDROME; LINKAGE (GENETICS); MALE;

EID: 27744501186     PISSN: 02558270     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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