Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 10, 2007, Pages 1087-1090

  Kosaki, Rika ^a   Fujimaru, Rika ^b   Samejima, Hazuki ^c   Yamada, Hiroshi ^d   Izumi, Kosuke ^c   Iijima, Kazumoto ^a   Kosaki, Kenjiro ^c  

^a NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b Osaka City Kita Hospital   (Japan)

^c KEIO UNIVERSITY   (Japan)

^d OSAKA CITY GENERAL HOSPITAL   (Japan)

Author keywords

Epibulbar dermoid; Goldenhar syndrome; SALL1; Townes Brocks syndrome

Indexed keywords

ARTICLE; CASE REPORT; EXTERNAL EAR MALFORMATION; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GOLDENHAR SYNDROME; HETEROZYGOTE; HUMAN; L419X GENE; MANDIBLE HYPOPLASIA; NONSENSE MUTATION; PHENOTYPIC VARIATION; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL; SALL1 GENE; TERATOMA; TOWNES BROCKS SYNDROME; ZINC FINGER MOTIF;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EAR, EXTERNAL; FAMILY; FEMALE; GOLDENHAR SYNDROME; HUMANS; PHENOTYPE; POINT MUTATION; SIBLINGS; TRANSCRIPTION FACTORS;

EID: 34248172481     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31700     Document Type: Article

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