Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

K Nakamura, M Kato, H Osaka, S Yamashita… - Neurology, 2013 - AAN Enterprises
Objective: We aimed to investigate the possible association between SCN2A mutations and
early-onset epileptic encephalopathies (EOEEs). Methods: We recruited a total of 328 …

[PDF][PDF] Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa

B Fischer-Zirnsak, N Escande-Beillard… - The American Journal of …, 2015 - cell.com
Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as
autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in …

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal …

DE Cervantes-Barragán, CE Villarroel… - Journal of medical …, 2011 - jmg.bmj.com
Background The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of
facial development, characterised by bitemporal or preauricular scar-like defects, the former …

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation …

D Matías-Pérez, LA García-Montaño… - Journal of Human …, 2018 - nature.com
Severe congenital eye malformations, particularly microphthalmia and anophthalmia, are
one of the main causes of visual handicap worldwide. They can arise from multifactorial …

[HTML][HTML] Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations

CE Villarroel, C Villanueva-Mendoza, L Orozco… - Molecular …, 2008 - ncbi.nlm.nih.gov
Purpose Paired box gene 6 (PAX6) heterozygous mutations are well known to cause
congenital non-syndromic aniridia. These mutations produce primarily protein truncations …

Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome

OF Chacon-Camacho, T Barragán-Arévalo… - European Journal of …, 2020 - Elsevier
Baraitser-Winter cerebrofrontofacial syndrome is an autosomal dominant disease
characterized by multiple congenital abnormalities and intellectual disability, which is …

The prevalence and phenotypic range associated with biallelic PKDCC variants

AT Pagnamenta, RS Belles, BA Salbert… - Clinical …, 2023 - Wiley Online Library
PKDCC encodes a component of Hedgehog signalling required for normal chondrogenesis
and skeletal development. Although biallelic PKDCC variants have been implicated in …

Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis

CE Villarroel, JC Zenteno, T Barragán-Arévalo… - Reproductive …, 2024 - Springer
Pathogenic variants of the SOHLH1 gene are responsible for an autosomal recessive form
of ovarian dysgenesis; this gene encodes a transcription factor expressed early in …

[HTML][HTML] Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

E Yokoyama, CE Villarroel, S Diaz, V Del Castillo… - Molecular …, 2020 - Springer
Background Monosomy of 1p36 is considered the most common terminal microdeletion
syndrome. It is characterized by intellectual disability, growth retardation, seizures …

First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological …

JR Corona-Rivera, JC Zenteno… - Molecular …, 2023 - karger.com
Introduction: PACS1-related neurodevelopmental disorder (PACS1-related NDD) is caused
by pathogenic variants in the PACS1 gene and is characterized by a distinctive facial …