Cryptic intragenic deletion of the SHOX gene in a family with Léri-weill dyschondrosteosis detected by multiplex ligation-dependent probe amplification (MLPA)

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 52, Issue 8, 2008, Pages 1382-1387

  Funari, Mariana F A ^a   Jorge, Alexander A L ^a   Pinto, Emilia M ^a   Arnhold, Ivo J P ^a   Mendonca, Berenice B ^a   Nishi, Mirian Y ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Intragenic deletion; L ri weill dyschondrosteosis; MLPA; SHOX

Indexed keywords

EID: 58849085922     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/S0004-27302008000800029     Document Type: Article

References (15)

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