Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 850-854

  Rohena, Luis ^a   Kuehn, Devon ^a   Marchegiani, Shannon ^a   Higginson, Jason D ^a  

^a National Capital Consortium   (United States)

Author keywords

Ablepharon macrostomia; Inheritance

Indexed keywords

ABLEPHARON MACROSTOMIA SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; ECHOCARDIOGRAPHY; EXOPHTHALMOS; FEMALE; FETUS ECHOGRAPHY; HEART DISEASE; HEART RIGHT VENTRICLE DILATATION; HUMAN; HYPOPLASIA; INFANT; KARYOTYPE; LABIA MAJORA HYPOPLASIA; MACROSTOMIA; MICROTIA; OMPHALOCELE; PRIORITY JOURNAL; SYNDACTYLY; TRACHEOMALACIA;

ABNORMALITIES, MULTIPLE; CHROMOSOME DISORDERS; EYE ABNORMALITIES; FEMALE; GENES, DOMINANT; HUMANS; INFANT, NEWBORN; MACROSTOMIA; MALE; PHENOTYPE; YOUNG ADULT;

EID: 79953300282     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33900     Document Type: Article

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