Reference health
A chondrodysplasia family produced by mutations in thediastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations
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20/20 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.
8 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 20 checked references that resolve
resolves10.1038/ng0795-357
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
resolves10.1016/S0022-3476(88)80113-6
Achondrogenesis type I: Delineation of further heterogeneity and identification of two distinct subgroups
resolves10.1007/BF01240381
Pathologisch-anatomische und radiologische Untersuchungen bei zwei fr�hgeborenen Geschwistern mit diastrophischem Zwergwuchs und ausgepr�gten Wirbels�ulenver�nderungen
resolves10.1002/ajmg.1320490418
Achondrogenesis type IB (Fraccaro): Study of collagen in the tissue and in chondrocytes cultured in agarose
resolves10.1038/ng1192-204
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
resolves10.1136/jmg.30.4.265
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
resolves10.1016/0092-8674(94)90281-X
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
resolves10.1016/S0021-9258(19)49491-X
cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia.
resolves10.1016/0003-9861(82)90064-9
Defect in 3′-phosphoadenosine 5′-phosphosulfate synthesis in brachymorphic mice
resolves10.1007/BF01954274
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
resolves10.1038/ng0196-100
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
resolves10.1038/ng0395-321
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
resolves10.3109/15513818809022316
Achondrogenesis…Hypochondrogenesis: the Spectrum of Chondrogenesis Imperfecta a Radiological, Ultrasonographic, and Histopathologic Study of 23 Cases
resolves10.1038/ng0694-154
Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene
The 8 references without a DOI — listed, not checked
no DOI — not checked10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N-BIB4
no DOI — not checked10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N-BIB5
no DOI — not checked10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N-BIB10
no DOI — not checked(1993): The Chondrodysplasias. In (eds): “Connective Tissue and Its Heritable Disorders: Molecular, Genetics, and Modical Aspects” Wiley Liss, pp 641–675.
no DOI — not checked10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N-BIB12
no DOI — not checked10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N-BIB14
no DOI — not checked10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N-BIB19
no DOI — not checked10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N-BIB22
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checked 2026-07-23 — re-checked daily as this page is visited; titles and statuses come from Crossref and DataCite and are not part of the signed record
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