Reference health
Nosology and classification of genetic skeletal disorders: 2019 revision
22/22 checkable references clean · checked 2026-07-23
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
6 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 22 checked references that resolve
resolves10.1016/S0022-3476(71)80286-X
A nomenclature for constitutional (intrinsic) diseases of bones
resolves10.1002/ajmg.a.37365
Nosology and classification of genetic skeletal disorders: 2015 revision
resolves10.1002/ajmg.a.37029
Mutations in <i>LONP1</i>, a mitochondrial matrix protease, cause CODAS syndrome
resolves10.1136/jmedgenet-2015-103108
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type
resolves10.1002/ajmg.a.36367
A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia
resolves10.1002/humu.23693
The homozygous variant c.797G>A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
resolves10.1038/s41591-019-0353-2
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
resolves10.1002/ajmg.10828
International nosology and classification of constitutional disorders of bone (2001)
resolves10.1002/ajmg.1320030107
International nomenclature of constitutional diseases of bone: Revision—May 1977
resolves10.1038/ejhg.2010.116
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q
resolves10.1007/s002470050458
International nomenclature and classification of the osteochondrodysplasias (1997)
resolves10.1371/journal.pgen.1004311
The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia
resolves10.1038/s41436-019-0595-x
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
resolves10.1038/srep17154
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
resolves10.1002/humu.22844
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
resolves10.1002/ajmg.a.31483
Nosology and classification of genetic skeletal disorders: 2006 revision
resolves10.1002/ajmg.a.36545
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
resolves10.1002/ajmg.a.33909
Nosology and classification of genetic skeletal disorders: 2010 revision
resolves10.1002/humu.21142
A specific mutation in the distant sonic hedgehog (<i>SHH</i>)<i>cis</i>-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
The 6 references without a DOI — listed, not checked
no DOI — not checkedInternational working group on constitutional diseases of bone
no DOI — not checkedConstitutional bone diseases without known pathogenesis
no DOI — not checkede_1_2_6_13_1
no DOI — not checkede_1_2_6_15_1
no DOI — not checkedInternational nomenclature of constitutional diseases of bone with bibliography
no DOI — not checkedInternational classification of osteochondrodysplasias. The international working group on constitutional diseases of bone
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