A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters

American Journal of Medical Genetics, Part A

Volumn 143, Issue 19, 2007, Pages 2221-2226

  Stevenson, David A ^a   Carey, John C ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Camptodactyly; Cerebellar hypoplasia; Congenital anomaly; New syndrome; Pierre Robin sequence

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME BANDING PATTERN; CLINICAL EXAMINATION; FACIES; FEMALE; FOLLOW UP; GROWTH RETARDATION; HUMAN; INFANT; MENTAL RETARDATION MALFORMATION SYNDROME; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PIERRE ROBIN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; BRAIN; FEMALE; HUMANS; INFANT, NEWBORN; MENTAL RETARDATION; PIERRE ROBIN SYNDROME;

EID: 34848814490     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31945     Document Type: Article

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