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...

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Autors principals:	Ayşe Öz, Gültekin Kutluk, Elif Naz Kadem, Nadide Cemre Randa
Format:	Artigo
Idioma:	Inglês
Publicat:	Alanya Alaaddin Keykubat University 2021-12-01
Col·lecció:	Acta Medica Alanya
Matèries:	angelman syndrome breath-holding episode intellectual disability pitt-hopkins syndrome tcf4 angelman sendromu nefes tutma nöbetleri pitt-hopkins sendromu zeka geriliği
Accés en línia:	https://dergipark.org.tr/tr/download/article-file/1620351
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