Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys

BACKGROUND: Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to dwarfism, microcephaly, and a range of multiple medical complications including...

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Detalles Bibliográficos
Autores principales: Hettiarachchi, D., Subasinghe, S. M. V., Anandagoda, G. G., Panchal, Hetalkumar, Lai, P. S., Dissanayake, V. H. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9009051/
https://www.ncbi.nlm.nih.gov/pubmed/35422036
http://dx.doi.org/10.1186/s12920-022-01226-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9009051/
https://www.ncbi.nlm.nih.gov/pubmed/35422036
http://dx.doi.org/10.1186/s12920-022-01226-8

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