Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a mutation in the ANKRD11 gene or a chromosomal rea...

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Detalles Bibliográficos
Autores principales: Kutkowska-Kaźmierczak, Anna, Boczar, Maria, Kalka, Ewa, Castañeda, Jennifer, Klapecki, Jakub, Pietrzyk, Aleksandra, Barczyk, Artur, Malinowska, Olga, Landowska, Aleksandra, Gambin, Tomasz, Kowalczyk, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Smyk, Marta, Dawidziuk, Mateusz, Niepokój, Katarzyna, Paczkowska, Magdalena, Szyld, Paweł, Lipska-Ziętkiewicz, Beata, Szczałuba, Krzysztof, Kostyk, Ewa, Runge, Agata, Rutkowska, Karolina, Płoski, Rafał, Nowakowska, Beata, Bal, Jerzy, Obersztyn, Ewa, Gos, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394041/
https://www.ncbi.nlm.nih.gov/pubmed/34440431
http://dx.doi.org/10.3390/genes12081257

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