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

10.1186/s12920-022-01226-8

Saved in:

Bibliographic Details
Main Authors:	Hettiarachchi, D, Subasinghe, SMV, Anandagoda, GG, Panchal, H, Lai, PS, Dissanayake, VHW
Other Authors:	PAEDIATRICS
Format:	Article
Published:	Springer Science and Business Media LLC 2022
Subjects:	Antigens Child, Preschool Dwarfism Fetal Growth Retardation Humans Kidney Kidney Diseases Male Microcephaly Mutation Osteochondrodysplasias
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/228683
Tags:	Add Tag No Tags, Be the first to tag this record!
Institution:	National University of Singapore

id	sg-nus-scholar.10635-228683
record_format	dspace
spelling	sg-nus-scholar.10635-2286832024-11-10T16:27:52Z Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys Hettiarachchi, D Subasinghe, SMV Anandagoda, GG Panchal, H Lai, PS Dissanayake, VHW PAEDIATRICS Assoc Prof Poh San Lai Antigens Child, Preschool Dwarfism Fetal Growth Retardation Humans Kidney Kidney Diseases Male Microcephaly Mutation Osteochondrodysplasias 10.1186/s12920-022-01226-8 BMC Medical Genomics 15 1 82- 2022-07-15T08:03:47Z 2022-07-15T08:03:47Z 2022-12-01 2022-07-14T03:39:44Z Article Hettiarachchi, D, Subasinghe, SMV, Anandagoda, GG, Panchal, H, Lai, PS, Dissanayake, VHW (2022-12-01). Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys. BMC Medical Genomics 15 (1) : 82-. ScholarBank@NUS Repository. https://doi.org/10.1186/s12920-022-01226-8 1755-8794 https://scholarbank.nus.edu.sg/handle/10635/228683 Springer Science and Business Media LLC Elements
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	Antigens Child, Preschool Dwarfism Fetal Growth Retardation Humans Kidney Kidney Diseases Male Microcephaly Mutation Osteochondrodysplasias
spellingShingle	Antigens Child, Preschool Dwarfism Fetal Growth Retardation Humans Kidney Kidney Diseases Male Microcephaly Mutation Osteochondrodysplasias Hettiarachchi, D Subasinghe, SMV Anandagoda, GG Panchal, H Lai, PS Dissanayake, VHW Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
description	10.1186/s12920-022-01226-8
author2	PAEDIATRICS
author_facet	PAEDIATRICS Hettiarachchi, D Subasinghe, SMV Anandagoda, GG Panchal, H Lai, PS Dissanayake, VHW
format	Article
author	Hettiarachchi, D Subasinghe, SMV Anandagoda, GG Panchal, H Lai, PS Dissanayake, VHW
author_sort	Hettiarachchi, D
title	Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
title_short	Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
title_full	Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
title_fullStr	Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
title_full_unstemmed	Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
title_sort	novel frameshift variant in the pcnt gene associated with microcephalic osteodysplastic primordial dwarfism (mopd) type ii and small kidneys
publisher	Springer Science and Business Media LLC
publishDate	2022
url	https://scholarbank.nus.edu.sg/handle/10635/228683
_version_	1821227131458289664

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

Similar Items