Otopalatodigital syndrome spectrum disorders: Otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

European Journal of Human Genetics

Volumn 15, Issue 1, 2007, Pages 3-9

  Robertson, Stephen P ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN A;

ALGORITHM; ARTICLE; BONE DYSPLASIA; CEREBELLUM HYPOPLASIA; CHROMOSOME MOSAICISM; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DOWN REGULATION; ENCEPHALOCELE; EXOPHTHALMOS; FACE DYSMORPHIA; FRAMESHIFT MUTATION; FRONTOMETAPHYSEAL DYSPLASIA; GENE CLUSTER; GENE DELETION; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC CODE; GENETIC COUNSELING; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HUMAN; HYDROCEPHALUS; HYPEROSTOSIS; JOINT CONTRACTURE; JOINT DISLOCATION; LETHALITY; LINKAGE ANALYSIS; MALFORMATION SYNDROME; MELNICK NEEDLES SYNDROME; MENTAL DEFICIENCY; MICROGNATHIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OBSTRUCTIVE UROPATHY; OMPHALOCELE; OTOPALATODIGITAL SYNDROME TYPE 1; OTOPALATODIGITAL SYNDROME TYPE 2; PATHOGENESIS; PEDIGREE ANALYSIS; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; RADIOLOGY; SCOLIOSIS; SEQUENCE ANALYSIS; THORAX DEFORMITY; X CHROMOSOMAL INHERITANCE; X CHROMOSOME LINKAGE;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, X; CONTRACTILE PROTEINS; FEMALE; GENETIC COUNSELING; HUMANS; INHERITANCE PATTERNS; MALE; MICROFILAMENT PROTEINS; MODELS, MOLECULAR; MOSAICISM; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; RISK ASSESSMENT; SYNDROME;

EID: 33845543672     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201654     Document Type: Article

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