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.

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A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene

P2860

Q47841425-E0E150D4-9E77-42F7-BF0E-231E829DF391 Q58700401-318B90FE-CD96-4E84-8F5A-CCBE6BD21E62

P2860

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.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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Identification of 15 novel par ...... tron 3 to be a hotspot region.

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Identification of 15 novel par ...... tron 3 to be a hotspot region.

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Identification of 15 novel par ...... tron 3 to be a hotspot region.

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P1476

Identification of 15 novel par ...... tron 3 to be a hotspot region.

@en

P2093

Alberta Belinchon-Martínez

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Carolina de la Torre

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Isabel González-Casado

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Judith L Ross

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Karen E Heath

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Miriam Aza-Carmona

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N Simon Thomas

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P2860

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

PHOG, a candidate gene for involvement in the short stature of Turner syndrome

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis

A microhomology-mediated break-induced replication model for the origin of human copy number variation.

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

P2888

jhg.2016.113

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229-234

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scholarly article

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10.1038/JHG.2016.113

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P478

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Andrew R. Zinn

Valerie Cormier-Daire

Celine Huber

Sara Benito-Sanz

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2016-09-08T00:00:00Z

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27604558

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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.

about

P2860

P2860

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.

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P1476

P2093

P2860

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P356

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P433

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P50

P577

P698