Yayınlanmış 1 Ocak 2017
| Sürüm v1
Dergi makalesi
Açık
Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation
Yazarlar/Oluşturanlar
- 1. Uludag Univ, Div Pediat Immunol, Fac Med, TR-16059 Gorukle, Bursa, Turkey
- 2. Uludag Univ, Div Pediat Endocrinol, Fac Med, TR-16059 Gorukle, Bursa, Turkey
- 3. Bursa High Specialty Training & Res Hosp, Dept Med Genet, TR-16310 Yildirim, Bursa, Turkey
- 4. Uludag Univ, Dept Med Genet, Fac Med, TR-16059 Gorukle, Bursa, Turkey
Açıklama
Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene.
Dosyalar
bib-7ecff72a-462d-4aa5-802c-06ba2464c876.txt
Dosyalar
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