A novel filamin a D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation

American Journal of Medical Genetics

Volumn 136 A, Issue 2, 2005, Pages 190-193

  Hidalgo Bravo, Alberto ^a   Pompa Mera, Ericka N ^b   Kofman Alfaro, Susana ^a   Gonzalez Bonilla, Cesar R ^b   Zenteno, Juan Carlos ^a,c,d  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^b INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^c INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

^d NONE   (Mexico)

Author keywords

Filamin A; Otopalatodigital syndrome; Skeletal dysplasia; Skewed X inactivation

Indexed keywords

ASPARTIC ACID; FILAMIN; FILAMIN A; TYROSINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BONE DYSPLASIA; CASE REPORT; CLEFT PALATE; FACE MALFORMATION; FEMALE; GENOTYPE; HEARING LOSS; HUMAN; MELNICK NEEDLES SYNDROME; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; OTOPALATODIGITAL SYNDROME 1; OTOPALATODIGITAL SYNDROME 2; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; ADULT; BASE SEQUENCE; BONE DISEASES, DEVELOPMENTAL; CHROMOSOMES, HUMAN, X; CLEFT PALATE; CONTRACTILE PROTEINS; CRANIOFACIAL ABNORMALITIES; DNA; DNA MUTATIONAL ANALYSIS; DOSAGE COMPENSATION, GENETIC; FEMALE; GROWTH DISORDERS; HUMANS; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; SYNDACTYLY; SYNDROME;

EID: 22044435648     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30792     Document Type: Article

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