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SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short StatureUse of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.A Track Record on SHOX: From Basic Research to Complex Models and TherapyInvestigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
P2860
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P2860
description
scientific article published on 09 June 2010
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wetenschappelijk artikel
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наукова стаття, опублікована у вересні 2010
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name
Usefulness of MLPA in the detection of SHOX deletions
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Usefulness of MLPA in the detection of SHOX deletions
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type
label
Usefulness of MLPA in the detection of SHOX deletions
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Usefulness of MLPA in the detection of SHOX deletions
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prefLabel
Usefulness of MLPA in the detection of SHOX deletions
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Usefulness of MLPA in the detection of SHOX deletions
@nl
P2093
P50
P1476
Usefulness of MLPA in the detection of SHOX deletions
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P2093
Ana E C Billerbeck
Ivo J P Arnhold
Mariana F A Funari
Silvia C A L Souza
P304
P356
10.1016/J.EJMG.2010.06.001
P577
2010-06-09T00:00:00Z