Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 535-538

  Goodin, Kara ^a   Prucka, Sandra ^a   Woolley, Audie L ^b   Kohlhase, Juergen ^c   Smith, Richard J H ^d   Grant, John ^b,e   Robin, Nathaniel H ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b University of Alabama at Birmingham   (United States)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF IOWA   (United States)

^e University of Alabama at Birmingham   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; EAR MALFORMATION; FACE DYSMORPHIA; FAMILIAL DISEASE; FEMALE; GASTROINTESTINAL MALFORMATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC TRAIT; GENETIC VARIABILITY; GOLDENHAR SYNDROME; HEMIFACIAL MICROSOMIA; HERITABILITY; HUMAN; LETTER; MACROSTOMIA; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUTATIONAL ANALYSIS; MUTATOR GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SALL1 GENE; SCREENING TEST; SKELETON MALFORMATION; UROGENITAL TRACT MALFORMATION;

ADOLESCENT; FAMILY; FEMALE; GOLDENHAR SYNDROME; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PROTEIN TYROSINE PHOSPHATASES; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 61749089126     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32673     Document Type: Letter

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