1 results match your criteria: "Gansu Provincial Central Hospital Medical Genetic Center[Affiliation]"
[Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
June 2023
Gansu Provincial Maternal and Child Health Hospital, Gansu Provincial Central Hospital Medical Genetic Center, Lanzhou, Gansu 730050, China.
Objective: To explore the genetic etiology of a child with Pitt-Hopkins syndrome.
Methods: A child who had presented at the Medical Genetics Center of Gansu Provincial Maternal and Child Health Care Hospital on February 24, 2021 and his parents were selected as the study subjects. Clinical data of the child was collected.