A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

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A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

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im März 2011 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в березні 2011

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A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

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A non-pathogenic pseudoautosomal region 1

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A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

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A non-pathogenic pseudoautosomal region 1

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A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

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A non-pathogenic pseudoautosomal region 1

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P1476

A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

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P2093

Daphne Chapman-Shimshoni

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Gheona Altarescu

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Maya Mashevich

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Orit Reish

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Paul Renbaum

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P2860

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

High incidence of SHOX anomalies in individuals with short stature.

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children with Leri-Weill Dyschondrosteosis and Turner Syndrome

Phenotypes Associated with SHOX Deficiency

P304

938-939

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scholarly article

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10.1002/AJMG.A.33871

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English

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155

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Arnold Munnich

Ephrat Levy-Lahad

Valerie Cormier-Daire

Celine Huber

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2011-03-15T00:00:00Z

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21412972

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