A puzzle over several decades: Eye anomalies with FRAS1 and STRA6 mutations in the same family

Clinical Genetics

Volumn 83, Issue 2, 2013, Pages 162-168

  Ng, W Y ^a,b   Pasutto, F ^c   Bardakjian, T M ^d   Wilson, M J ^a   Watson, G ^e   Schneider, A ^d   Mackey, D A ^f   Grigg, J R ^b,g   Zenker, M ^c,h   Jamieson, R V ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d ALBERT EINSTEIN MEDICAL CENTER   (United States)

^e ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^g SYDNEY EYE HOSPITAL   (Australia)

^h UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

Author keywords

Anophthalmia; Coloboma; FRAS1; Fraser; MCOPS9; Microphthalmia; STRA6

Indexed keywords

CYSTINE; FRAS1 PROTEIN; LEUCINE; METHIONINE; PHENYLALANINE; PROLINE; PROTEIN; STRA6 PROTEIN; THREONINE; TYROSINE; UNCLASSIFIED DRUG;

ANOPHTHALMIA; ANORECTAL MALFORMATION; ANUS ATRESIA; ARTICLE; ATELECTASIS; CASE REPORT; CLEFT LIP; CLEFT PALATE; COLOBOMA; CRYPTOPHTHALMOS; DIAPHRAGM DISEASE; EAR DYSPLASIA; EYE MALFORMATION; FALLOT TETRALOGY; FEMALE; FRAMESHIFT MUTATION; FRASER SYNDROME; GENE MUTATION; GENITAL MALFORMATION; HETEROZYGOTE; HUMAN; HYPERTRICHOSIS; KARYOTYPE; KIDNEY AGENESIS; LARYNX STENOSIS; LUNG HYPOPLASIA; MICROPHTHALMIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NOSE MALFORMATION; NUCLEOTIDE SEQUENCE; OPTIC NERVE DISEASE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROGENY; SKULL MALFORMATION; SYNDACTYLY; UMBILICAL MALFORMATION; URINARY TRACT MALFORMATION;

ADULT; COLOBOMA; DIAGNOSIS, DIFFERENTIAL; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FRASER SYNDROME; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MICROPHTHALMOS; MUTATION;

EID: 84872048097     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01851.x     Document Type: Article

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