Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1

American Journal of Medical Genetics, Part A

Volumn 143, Issue 3, 2007, Pages 241-247

  Cavalcanti, Denise Pontes ^a   Matejas, Verena ^b   Luquetti, Daniela ^a   Mello, Marcos Fernando ^a   Zenker, Martin ^b,c  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Ablepharon macrostomia syndrome; Autosomal recessive; Cryptophthalmos; Fraser syndrome; Molecular genetics; Renal agenesis

Indexed keywords

MESSENGER RNA;

ABLEPHARON MACROSTOMIA SYNDROME; ARTICLE; BRAZIL; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; ESOPHAGUS STENOSIS; FAMILIAL DISEASE; FETUS; FRAS1 GENE; FRASER SYNDROME; FREM2 GENE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOSS; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HEMOPERITONEUM; HOMOZYGOSITY; HUMAN; HYDROTHORAX; HYPOSPADIAS; KIDNEY AGENESIS; LUNG HYPOPLASIA; MACROSTOMIA; MALE; MALROTATION SYNDROME; PRIORITY JOURNAL; RNA SPLICING; TRACHEOMALACIA;

ABNORMALITIES, MULTIPLE; CRANIOFACIAL ABNORMALITIES; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; INFANT, NEWBORN; MACROSTOMIA; MALE; MUTATION; PHENOTYPE; STILLBIRTH;

EID: 33846828781     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31426     Document Type: Article

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