Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings

Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion of exon 4 and a c.1977_1989del13; p.V660F...

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Detalles Bibliográficos
Autores principales: Mittal, Rea, Kumar, Ashutosh, Ladda, Roger, Mainali, Gayatra, Aliu, Ermal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8586170/
https://www.ncbi.nlm.nih.gov/pubmed/34778490
http://dx.doi.org/10.1177/2329048X211055330

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8586170/
https://www.ncbi.nlm.nih.gov/pubmed/34778490
http://dx.doi.org/10.1177/2329048X211055330

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