Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: Review of the focal facial dermal dysplasias and subtype reclassification

Journal of Medical Genetics

Volumn 48, Issue 10, 2011, Pages 716-720

  Cervantes Barragán, David E ^a   Villarroel, Camilo E ^a   Medrano Hernández, Alma ^a   Durán McKinster, Carola ^a   Bosch Canto, Vanessa ^a   del Castillo, Victoria ^a   Nazarenko, Irina ^b   Yang, Amy ^b   Desnick, Robert J ^b  

^a INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR TWIST; TRANSCRIPTION FACTOR TWIST2; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAUER SETLEIS PHENOTYPE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CORNEA ULCER; DISEASE CLASSIFICATION; DNA ISOLATION; EPICANTHUS; EYE DISEASE; EYEBROW; EYELASH; FACE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE SEQUENCE; GENODERMATOSIS; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; KARYOTYPE; LYMPHEDEMA DISTICHIASIS; MOLECULAR GENETICS; NIPPLE MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; SETLEIS SYNDROME; SIBLING;

CHILD; EYELASHES; FACE; FEMALE; FOCAL DERMAL HYPOPLASIA; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; INDIANS, NORTH AMERICAN; INFANT; MALE; MEXICO; PEDIGREE; PHENOTYPE; REPRESSOR PROTEINS; SIBLINGS; SKIN DISEASES; TWIST TRANSCRIPTION FACTOR;

EID: 80955136596     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100251     Document Type: Article

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