Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant.

Autor: Troncoso, Mónica¹ (AUTHOR), Balut, Fernanda¹ (AUTHOR) febalut@uchile.cl, Witting, Scarlet¹ (AUTHOR), Rubilar, Carla¹ (AUTHOR), Carrera, Jorge² (AUTHOR), Cartes, Fabiola³ (AUTHOR), Herrera, Luisa³ (AUTHOR)

Publikováno v: Clinical Case Reports. May2021, Vol. 9 Issue 5, p1-5. 5p.

Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant

Autor: Carla Rubilar, Mónica Troncoso, Luisa Herrera, Scarlet Witting, F. Balut, Fabiola Cartes, Jorge Carrera

Publikováno v: Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 5, Pp n/a-n/a (2021)

It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy.
It is key to expand the differential diag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6038986a0164d9ac98603f3a667cec33
https://doi.org/10.1002/ccr3.4171

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First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view.

Autor: Ben Issa A; Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax University, Sfax, Tunisia. abir.benissa.bio@gmail.com.; Research Laboratory (LR19ES15), Sfax Medical School, Sfax University, Sfax, Tunisia. abir.benissa.bio@gmail.com.; Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia. abir.benissa.bio@gmail.com., Kamoun F; Research Laboratory (LR19ES15), Sfax Medical School, Sfax University, Sfax, Tunisia.; Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.; Child Neurology Department, Hedi Chaker Hospital, Sfax, Tunisia., Khabou B; Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax University, Sfax, Tunisia., Bouchaala W; Research Laboratory (LR19ES15), Sfax Medical School, Sfax University, Sfax, Tunisia.; Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.; Child Neurology Department, Hedi Chaker Hospital, Sfax, Tunisia., Fakhfakh F; Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax University, Sfax, Tunisia., Triki C; Research Laboratory (LR19ES15), Sfax Medical School, Sfax University, Sfax, Tunisia.; Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.; Child Neurology Department, Hedi Chaker Hospital, Sfax, Tunisia.

Publikováno v: Journal of human genetics [J Hum Genet] 2024 Oct 28. Date of Electronic Publication: 2024 Oct 28.

Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report.

Autor: Simeon, Rachele, Berardi, Anna, Valente, Donatella, Volpi, Tiziana, Vagni, Samuele, Galeoto, Giovanni

Publikováno v: Children; Jul2023, Vol. 10 Issue 7, p1257, 9p