Open Accessrare mutation in PRUNE 1- gene causing a neurodevelopmental disease with rare systemic manifestations in a Saudi child
Author(s) -
Youssef A. Alqahtani,
Bothaina M. Ghazali,
Huda F. Abbag,
Wejdan F. Abbag,
Majdoleen A. Alghamdi,
Sumiah A. Shati
Publication year - 2022
Publication title -
international journal of health sciences (ijhs) (en línea)
Language(s) - English
Resource type - Journals
eISSN - 2550-6978
pISSN - 2550-696X
DOI - 10.53730/ijhs.v6ns5.9503
Subject(s) - hypotonia , microcephaly , hypertelorism , medicine , pediatrics , compound heterozygosity , mutation , pathology , genetics , biology , anatomy , gene