NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME
| Contribuinte(s) |
Universidade Estadual Paulista (UNESP) |
|---|---|
| Data(s) |
20/05/2014
20/05/2014
15/01/1994
|
| Resumo |
We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachy-camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. (C) 1994 Wiley-Liss, Inc. |
| Formato |
224-228 |
| Identificador |
http://dx.doi.org/10.1002/ajmg.1320490213 American Journal of Medical Genetics. New York: Wiley-liss, v. 49, n. 2, p. 224-228, 1994. 0148-7299 http://hdl.handle.net/11449/38928 10.1002/ajmg.1320490213 WOS:A1994MP33000012 |
| Idioma(s) |
eng |
| Publicador |
Wiley-Blackwell |
| Relação |
American Journal of Medical Genetics |
| Direitos |
closedAccess |
| Palavras-Chave | #BLEPHAROPHIMOSIS #SMALL EARS #CAMPTODACTYLY #PECTUS EXCAVATUM #CONSANGUINITY #AUTOSOMAL RECESSIVE INHERITANCE |
| Tipo |
info:eu-repo/semantics/article |
