Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review.
Am J Med Genet A
; 152A(8): 2057-60, 2010 Aug.
Article
em En
| MEDLINE
| ID: mdl-20635354
ABSTRACT
We report on a girl with Giuffrè-Tsukahara syndrome manifesting microcephaly, mental retardation, radio-ulnar synostosis, short stature and scoliosis. Skewed X-inactivation was not observed in our patient. We reviewed previous reports and provide evidence in support of X-linked dominant inheritance of this condition.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Escoliose
/
Sinostose
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Transtornos do Crescimento
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Microcefalia
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Índia