Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with menkes disease

Pediatric Research

Volumn 65, Issue 3, 2009, Pages 347-351

  Sirleto, Pietro ^a   Surace, Cecilia ^a   Santos, Helena ^a,b   Bertini, Enrico ^a   Tomaiuolo, Anna C ^a   Lombardo, Antonietta ^a   Boenzi, Sara ^a   Bevivino, Elsa ^a   Dionisi Vici, Carlo ^a   Angioni, Adriano ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b CENTRO HOSPITALAR DE VILA NOVA DE GAIA ESPINHO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; COPPER; FRAGILE X MENTAL RETARDATION PROTEIN; MENKES PROTEIN;

ARTICLE; CASE REPORT; CERULOPLASMIN BLOOD LEVEL; CHILD; CHROMOSOME REARRANGEMENT; CHROMOSOME REPLICATION; CHROMOSOME TRANSLOCATION 16; CHROMOSOME TRANSLOCATION X; COPPER BLOOD LEVEL; DNA POLYMORPHISM; FEMALE; HUMAN; MENKES SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; CEREBRAL ARTERIES; CHILD; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MENKES KINKY HAIR SYNDROME; PHENOTYPE; TRANSLOCATION, GENETIC; X CHROMOSOME INACTIVATION;

EID: 61949315811     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e3181973b4e     Document Type: Article

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