التفاصيل البيبلوغرافية
العنوان:
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
المؤلفون:
Julián Nevado , Sixto García-Miñaúr , María Palomares-Bralo , Elena Vallespín , Encarna Guillén-Navarro , Jordi Rosell , Cristina Bel-Fenellós , María Ángeles Mori , Montserrat Milá , Miguel del Campo , Pilar Barrúz , Fernando Santos-Simarro , Gabriela Obregón , Carmen Orellana , Harry Pachajoa , Jair Antonio Tenorio , Enrique Galán , Juan C. Cigudosa , Angélica Moresco , César Saleme , Silvia Castillo , Elisabeth Gabau , Luis Pérez-Jurado , Ana Barcia , Maria Soledad Martín , Elena Mansilla , Isabel Vallcorba , Pedro García-Murillo , Franco Cammarata-Scalisi , Natálya Gonçalves Pereira , Raquel Blanco-Lago , Mercedes Serrano , Juan Dario Ortigoza-Escobar , Blanca Gener , Verónica Adriana Seidel , Pilar Tirado , Pablo Lapunzina , Spanish PMS Working Group , Mena Rocío , Lleguer Roser , Fernández-Montaño Victoria , Martín Rubén , Fernández Blanca , García-Santiago Fé , Gómez del Pozo Victoria , Peña Carolina , Alhambra Norma , García Carlos , Rodríguez Juan Ramón , Martínez-Bermejo Antonio , Málaga Ignacio , Martínez-Monseny Antonio Federico , Armstrong Judith , Anticona Jennifer , Hernando-Davalillo Cristina , San Martí Adrián Alcalá , Martorell Loreto , Yubero Delia , Nunes Tania , Callaghan Mar O´ , Alonso Xenia , Ramos Federico , López Jesús Casas , López-González Vanesa , M Juliana Ballesta , Armengol Lluís , González-Meneses Antonio , Borrego Salud , Roselló Mónica , Suela Javier , Pérez-Granero Ángeles , Rodríguez-Revenga Laia
المصدر:
Frontiers in Genetics, Vol 13 (2022)
بيانات النشر:
Frontiers Media S.A., 2022.
سنة النشر:
2022
المجموعة:
LCC:Genetics
مصطلحات موضوعية:
autistic behavior , 22q13 deletion syndrome , Phelan-McDermid syndrome (PMS) , SHANK3 , subtelomeric deletion syndrome , intellectual disabilities (ID) , Genetics , QH426-470
الوصف:
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that plays a central role in the formation of the postsynaptic terminals and the maintenance of synaptic structures. Clinically, patients with PMS often present with global developmental delay, absent or severely delayed speech, neonatal hypotonia, minor dysmorphic features, and autism spectrum disorders (ASD), among other findings. Here, we describe a cohort of 210 patients with genetically confirmed PMS. We observed multiple variant types, including a significant number of small deletions (
نوع الوثيقة:
article
وصف الملف:
electronic resource
اللغة:
English
تدمد:
1664-8021
العلاقة:
https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/fullTest ; https://doaj.org/toc/1664-8021Test
DOI:
10.3389/fgene.2022.652454
الوصول الحر:
https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57Test
رقم الانضمام:
edsdoj.45e2ed9b52f940b0bd31664eea90cf57
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