Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report

European Journal of Medical Genetics

Volumn 54, Issue 4, 2011, Pages

  Kraoua, Lilia ^a,b   Chaabouni, Myriam ^a,b   Ewers, Elisabeth ^c   Chelly, Imen ^a,b   Ouertani, Ines ^a,b   Ben Jemaa, Lamia ^a,b   Maazoul, Faouzi ^a   Liehr, Thomas ^c   Chaabouni, Habiba ^a,b  

^a CHARLES NICOLLE HOSPITAL   (Tunisia)

^b UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^c JENA UNIVERSITY HOSPITAL   (Germany)

Author keywords

Inv dup(15); OCA2 gene; PWACR; Supernumerary marker chromosome

Indexed keywords

CARBAMAZEPINE; VALPROIC ACID;

ADOLESCENT; ADRENAL CORTEX ATROPHY; ARTICLE; BRAIN RADIOGRAPHY; CASE REPORT; CHROMOSOME 15; CHROMOSOME ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; EPILEPSY; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DOSAGE; GENE LOCATION; HAPPY PUPPET SYNDROME; HUMAN; HYPERPIGMENTATION; KARYOTYPE; MALE; MENTAL DEFICIENCY; OCULOCUTANEOUS ALBINISM; OCULOCUTANEOUS ALBINISM TYPE 2; PRADER WILLI SYNDROME; SKIN PIGMENTATION; SUPERNUMERARY CHROMOSOME;

ADOLESCENT; ANGELMAN SYNDROME; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; PHENOTYPE; PIGMENTATION DISORDERS; PRADER-WILLI SYNDROME;

EID: 79960087849     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.04.007     Document Type: Article

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