An illustrative case of Léri-Weill dyschondrosteosis

We report on a girl presenting Léri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstrated through detection of hemizygosity...

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Hlavní autoři: Renata de Lima, Cristina Forti Iamada, Luciana Oliveira Silva, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra
Médium: Artigo
Jazyk:Inglês
Vydáno: Sociedade Brasileira de Genética 2008-01-01
Edice:Genetics and Molecular Biology
Témata:
Léri-Weill dyschondrosteosis
Madelung's deformity
pseudoautosomal dominant inheritance
short stature
SHOX gene
On-line přístup:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500007
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