QR Kod

The Pitt-Hopkins Syndrome: Report of 5 Patients and Literature Comparison

Pitt-Hopkins syndrome (PTHS) is characterized by developmental delay, intellectual disability and behavioral changes, distinctive facial gestalt, and breathing abnormalities. PTHS is caused by deletions or pathological variants in the TCF4 gene located at 18q21.2. In this report, we aimed to describ...

Ful tanımlama

Kaydedildi:
Asıl Yazarlar: Ayşe Öz, Gültekin Kutluk, Elif Naz Kadem, Nadide Cemre Randa
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Alanya Alaaddin Keykubat University 2021-12-01
Seri Bilgileri:Acta Medica Alanya
Konular:
angelman syndrome
breath-holding episode
intellectual disability
pitt-hopkins syndrome
tcf4
angelman sendromu
nefes tutma nöbetleri
pitt-hopkins sendromu
zeka geriliği
Online Erişim:https://dergipark.org.tr/tr/download/article-file/1620351
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller