Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations

American Journal of Medical Genetics, Part A

Volumn 140, Issue 13, 2006, Pages 1458-1462

  Carvalho, D R ^a   Giuliani, L R ^a   Simao G N ^b   Santos, A C ^b   Pina Neto, João M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b University Hospital   (Brazil)

Author keywords

Dandy Walker malformation; Encephalocele

Indexed keywords

ADULT; AGED; ARTICLE; ATRETIC CEPHALOCELE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BRAIN MALFORMATION; BRAZIL; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILIAL DISEASE; FEMALE; HISTOPATHOLOGY; HUMAN; MALE; PATHOGENESIS; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENCE RISK; SCHOOL CHILD;

ADULT; AGED; ALOPECIA; BRAZIL; CHILD; CHILD, PRESCHOOL; ENCEPHALOCELE; FAMILY CHARACTERISTICS; FEMALE; GENES, DOMINANT; GENETIC VARIATION; HUMANS; KARYOTYPING; MALE; MENINGOCELE; MIDDLE AGED; PEDIGREE; PHENOTYPE; SCALP; STRABISMUS; VARIATION (GENETICS);

EID: 33745619598     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31255     Document Type: Article

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