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

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

Abstract 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 in...

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Main Authors: D. Hettiarachchi (Author), S. M. V. Subasinghe (Author), G. G. Anandagoda (Author), Hetalkumar Panchal (Author), P. S. Lai (Author), V. H. W. Dissanayake (Author)
Format: Book
Published: BMC, 2022-04-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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