A SHOX géndeletio előfordulása idiopáthiás alacsonynövésben. Multicentrikus tanulmány | Zendy

Anna L. David | Zendy; Henriett Butz | Zendy; Zita Halász | Zendy; Dóra Török | Zendy; Gábor Nyírő | Zendy; Ágota Muzsnai | Zendy; Violetta Csákváry | Zendy; Andrea Luczay | Zendy; Ágnes Sallai | Zendy; Éva Hosszú | Zendy; Enikő Felszeghy | Zendy; Attila Tar | Zendy; Zsuzsanna Szántó | Zendy; Gy. László Fekete | Zendy; Imre Zoltán Kun | Zendy; Attila Patócs | Zendy; Rita Bertalan | Zendy

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A SHOX géndeletio előfordulása idiopáthiás alacsonynövésben. Multicentrikus tanulmány

Author(s) -

Anna L. David,

Henriett Butz,

Zita Halász,

Dóra Török,

Gábor Nyírő,

Ágota Muzsnai,

Violetta Csákváry,

Andrea Luczay,

Ágnes Sallai,

Éva Hosszú,

Enikő Felszeghy,

Attila Tar,

Zsuzsanna Szántó,

Gy. László Fekete,

Imre Zoltán Kun,

Attila Patócs,

Rita Bertalan

Publication year - 2017

Publication title -

orvosi hetilap

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.176

H-Index - 21

eISSN - 1788-6120

pISSN - 0030-6002

DOI - 10.1556/650.2017.30829

Subject(s) - haploinsufficiency , short stature , turner syndrome , arm span , medicine , multiplex ligation dependent probe amplification , pediatrics , idiopathic short stature , genetics , biology , gene , phenotype , growth hormone , anthropometry , hormone , exon

The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (ISS), in 50-90% of patients with Leri-Weill dyschondrosteosis syndrome (LWS), and in almost 100% of patients with Turner syndrome.

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