HER AYIN İLK GÜNÜ ÜCRETSİZ KARGO! 600 TL VE ÜZERİ KARGO BEDAVA HER AYIN İLK GÜNÜ ÜCRETSİZ KARGO! 600 TL VE ÜZERİ KARGO BEDAVA HER AYIN İLK GÜNÜ ÜCRETSİZ KARGO! 600 TL VE ÜZERİ KARGO BEDAVA HER AYIN İLK GÜNÜ ÜCRETSİZ KARGO! 600 TL VE ÜZERİ KARGO BEDAVA

Identification of RBBP8 mutation in Pakistani families affected with Jawad Syndrome

Hızlı Gönderi
Güvenli Alışveriş
İade ve Değişim

Among the group of craniodigital syndromes, patients with Ja- wad syndrome have a striking congenital microcephaly, mod- erate to severe intellectual disability, white spots on the skin of the hands and feet, anonychia congenita, polydactyly of fm- gers and toes and syndactyly of the second and third toe (syn- polydactyly) of variable degree. Here, I report two further fam- ilies of Jawad syndrome form Pakistan. I present the detailed clinical analysis along with the identification of a mutation (c.l808-1809delTA, p.Ile603Lysfs*7) in one family by whole-exome sequencing. The same mutation was identifıed in the second family by Sanger sequencing. I propose this as a founder mutation because both families described here and the previously reported one carried the same mutation. Further- more, the homozygosity mapping corroborated my hypothesis of the founder mutation based on the identification of the same haplotype shared by both unrelated families.

Basım Yılı2021
Baskı Sayısı1
Cilt TipiCiltsiz
Kağıt Tipi2. Hamur
Sayfa Sayısı72
YazarEmrah Kaygusuz
TESLİMAT
 
Ürünü sipariş verdiğiniz tarihten itibaren 4 iş günü içerisinde kargoya verilecektir. 
 
Benzer Ürünler
Yükleniyor...