Clinical case of distal arthrogryposis in combination with epilepsy due to an unbalanced translocation

The clinical case of a patient with congenital contractures of the lower and upper limbs, face, seizures, facial dysmorphias, motor disorders and psychomotor development delay is presented. The proband with Freeman–Sheldon syndrome had no mutations in genes associated with distal arthrogryposis. Chr...

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Autori principali:	T. V. Kozhanova, S. S. Zhilina, T. I. Meshсheryakova, N. P. Prokopyeva, A. G. Prityko, N. N. Zavadenko
Natura:	Artigo
Lingua:	Russo
Pubblicazione:	IRBIS LLC 2022-07-01
Serie:	Эпилепсия и пароксизмальные состояния
Soggetti:	distal arthrogryposis freeman–sheldon syndrome molecular karyotyping
Accesso online:	https://www.epilepsia.su/jour/article/view/796
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