Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.
about
Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification AssayInvestigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.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.Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Reply to Benito-Sanz et al.SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.An illustrative case of Léri-Weill dyschondrosteosis
P2860
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P2860
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.
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2006 nî lūn-bûn
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Characterization of SHOX delet ...... and no recombination hotspots.
@en
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis
@nl
type
label
Characterization of SHOX delet ...... and no recombination hotspots.
@en
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis
@nl
prefLabel
Characterization of SHOX delet ...... and no recombination hotspots.
@en
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis
@nl
P2093
P2860
P50
P356
P1476
Characterization of SHOX delet ...... and no recombination hotspots.
@en
P2093
David Bunyan
Miriam Aza-Carmona
N Simon Thomas
Vivienne Maloney
P2860
P304
409-14; author reply 414
P356
10.1086/506390
P407
P50
P577
2006-08-01T00:00:00Z