مقالة علمية
Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

Al Rashdi, Ismail.


 

Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

Al Rashdi, Ismail.

This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases of unexplained hypoventilation.

This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis a...

مشاهدة المزيد
  • مشاركة :

مادة فرعية

المؤلف : Al Rashdi, Ismail.

مؤلف مشارك : Al Ghafri, Mohammad
Said Al Hanshi
Nabil Al Macki

بيانات النشر : Muscat، Sultanate of Oman : Oman Medical Journal، سبتمبر 2011مـ.

التصنيف الموضوعي : العلوم التطبيقية|العلوم الطبية .

المواضيع : Congenital central hypoventilation syndrome .

رقم الطبعة : 5

المصدر : Oman Medical Journal : Muscat، Sultanate of Oman.

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المجموع

Oman Medical Journal = المجلة الطبية العمانية