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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Renata de Lima, Cristina Forti Iamada, Luciana Oliveira Silva, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra
Format: Artigo
Jezik:Inglês
Izdano: Sociedade Brasileira de Genética 2008-01-01
Serija:Genetics and Molecular Biology
Teme:
Léri-Weill dyschondrosteosis
Madelung's deformity
pseudoautosomal dominant inheritance
short stature
SHOX gene
Online pristup:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500007
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items