About: Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R

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About: Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R Goto Sponge NotDistinct Permalink

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scientific article published on 15 August 2013

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в серпні 2013 (uk) article scientifique publié en 2013 (fr) im August 2013 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'agostu de 2013 (ast) scientific article published on 15 August 2013 (en)
publication date	wds:Q60655481-71CC493B-C975-4BED-9A49-5FAC3D1C9A96
publication date	2013-08-15 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q60655481-1213D7B3-E7DA-40C0-BD98-D1DCB8C9F470
language of work or name	English
author name string	wds:Q60655481-034A3ED5-508B-4D7B-9E8A-F875F469F8C6 wds:Q60655481-1BEFE67E-0BF3-4EF6-8365-927BC509451E wds:Q60655481-33522CA3-8262-4F12-8F2C-46A5B40BCAA1 wds:Q60655481-3AD2AA59-731B-49E0-88A1-347CF2036F73 wds:Q60655481-41DC13FF-E612-4F60-998E-4496CF8F3032 wds:Q60655481-5250A212-5923-4871-938F-D49840B3226E wds:Q60655481-57DF018F-E4F9-471E-B26D-3DCB2BE0D8DC wds:Q60655481-822BCB05-77F2-4366-9F5F-29C6C773B10F wds:Q60655481-83E784F8-4AA8-47BF-A4F6-7AACC8404FC4 wds:Q60655481-95815F82-AABF-4AC8-9C9E-6E2918976913
author name string	Andrea Superti-Furga Claudia Izzi Daniele Moratto Gaetana Lanzi Alba Pilotta Maria Pia Bondioni Gianfranco Savoldi Lucio Verdoni Marino Signorelli Moira Pinotti
rdfs:label	Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R (en) Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R (nl)
skos:prefLabel	Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R (en) Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R (nl)
name	Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R (en) Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R (nl)
author	wds:Q60655481-2EF8AAEC-CB3D-41C2-8230-DE144638BDEF wds:Q60655481-A69FD319-3F72-4600-B165-2B595C05C985
author	Federico Prefumo Chiara Romani
title	wds:Q60655481-DD608CA9-DD9E-41C7-911D-B5710D2A1993
title	Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R (en)
page(s)	wds:Q60655481-845E5885-A4F3-4E98-B47B-A238F11C0EE7
page(s)	2614-2619
instance of	wds:Q60655481-AB65C44C-A561-48D9-9897-424BDB4D5550
instance of	scholarly article
main subject	wds:Q60655481-3558FDD8-B1DA-47BE-98B7-3E25AB0E5F4D wds:Q60655481-AB3C845A-FF11-4E5F-8EAC-CA0824CBC53B
main subject	metaphyseal dysplasia metaphyseal dysplasia, Braun-Tinschert type
PubMed ID	wds:Q60655481-ECEBB38A-57E3-4A64-A9A1-33CB39296992
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/23950054
PubMed ID	23950054
published in	wds:Q60655481-3658589E-74B6-4993-A28C-5948FAD0B8C5
published in	American Journal of Medical Genetics
issue	wds:Q60655481-2BC4DF19-FAC1-4D61-B42D-A3C50249DBC5
volume	wds:Q60655481-15EED345-FAA4-4DFC-9456-61F83FEFED3A
issue	10
volume	161A
DOI	wds:Q60655481-E3BB0DA6-40CF-4EA9-B619-20A406D7C040
DOI	http://dx.doi.org/10.1002/AJMG.A.36115
DOI	10.1002/AJMG.A.36115
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q60655481
is cites work of	PTHrp comes full circle in cancer biology Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia Genetics of Short Stature Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis
is cites work of	wds:Q38661483-1CD60FD6-1BBA-4D26-9A1A-52B6A4BCCAA6 wds:Q34977243-B8E354FC-7337-4CD4-B625-51BEA9905ED9 wds:Q88774301-6BE927E0-F9B5-4AC4-956E-434702AB10FD wds:Q92686596-1776B8DF-0D29-4313-8E21-D575644D2AC2 wds:Q42733110-C45E648B-CF34-4629-8F7C-7FCE8D1BFB9F wds:Q39286284-7CD25878-48E3-419F-B33A-11AD6E8CEE6F

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