MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female

Advances in Experimental Medicine and Biology

Volumn 707, Issue , 2011, Pages 129-131

  Brandão, Maíra Pontual ^b   Costa, Elaine Maria Frade ^b   Fukami, Maki ^b   Gerdulo, Mariza ^b   Pereira, Natalia P ^b   Domenice, Sorahia ^b   Ogata, Tsutomu ^b   Mendonca, Berenice B ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CLINICAL ARTICLE; CLITORIS; CLITORIS HYPERTROPHY; EXON; FEMALE; GAIN OF FUNCTION MUTATION; GENDER; GENE; GENE LOCATION; GENETIC SCREENING; GONADAL DYSGENESIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAMLD1 GENE; MASTERMIND LIKE DOMAIN CONTAINING 1 GENE; MISSENSE MUTATION; PRIORITY JOURNAL; SEX DIFFERENTIATION DISORDER; TRANSACTIVATION; VIRILIZATION;

46, XX DISORDERS OF SEX DEVELOPMENT; DNA-BINDING PROTEINS; FEMALE; HOMOZYGOTE; HUMANS; MUTATION, MISSENSE; NUCLEAR PROTEINS; TRANSCRIPTION FACTORS; VIRILISM;

EID: 79960734002     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-8002-1_28     Document Type: Article

References (7)

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