Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29

Dermatology

Volumn 223, Issue 4, 2012, Pages 306-310

  Chabchoub, E ^a,b   Cogulu, O ^c   Durmaz, B ^c   Vermeesch, J R ^a   Ozkinay, F ^c   Fryns, J P ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF SOUSSE   (Tunisia)

^c EGE UNIVERSITY   (Turkey)

Author keywords

Array comparative genomic hybridisation; Candidate gene; Chromosome 3q; Cross syndrome; Deletion; Genetic skin disease; Oculocerebral hypopigmentation syndrome

Indexed keywords

ATHETOSIS; AUTOSOMAL RECESSIVE DISORDER; BLADDER DIVERTICULUM; CASE REPORT; CHILD; CHROMOSOME 1Q; CHROMOSOME 3Q; CHROMOSOME BREAKAGE; CHROMOSOME G BAND; CHROMOSOME MAP; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DISORDER OF GLYCOSYLATION; CONSANGUINEOUS MARRIAGE; CROSS ALLERGY; CROSS SYNDROME; CYTOGENETICS; DEVELOPMENTAL DISORDER; ECTOPIC KIDNEY; FAILURE TO THRIVE; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENOTYPE PHENOTYPE CORRELATION; HEAD CIRCUMFERENCE; HUMAN; HUMAN TISSUE; HYPERREFLEXIA; HYPOPIGMENTATION; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; JOINT LAXITY; LOW BIRTH WEIGHT; MICROCEPHALY; MICROGNATHIA; MICROPHTHALMIA; MUSCLE HYPOTONIA; NEPHROLITHIASIS; NEUROLOGIC EXAMINATION; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; REVIEW; SCALP HAIR; SCLERA DISEASE; SKELETON RADIOGRAPHY; SPINE FUSION; SYNDACTYLY; TELECANTHUS; UPPER LIP; URETEROLITHOTOMY; URINALYSIS; URINARY TRACT INFECTION; VESICOURETERAL REFLUX;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; CRANIOFACIAL ABNORMALITIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; MICROCEPHALY; PIGMENTATION DISORDERS;

EID: 84858452183     PISSN: 10188665     EISSN: 14219832     Source Type: Journal    
DOI: 10.1159/000335609     Document Type: Review

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