Reference health
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: First report of a Mexican patient and genotype–phenotype correlation
12/12 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.
5 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 12 checked references that resolve
resolves10.1136/jmg.40.1.65
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for <i>DTDST</i> mutation R279W
resolves10.1016/0092-8674(94)90281-X
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
resolves10.1093/hmg/10.14.1485
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype
resolves10.1034/j.1399-0004.1999.560110.x
Homozygosity for a novel DTDST mutation in a child with a ‘broad bone‐platyspondylic’ variant of diastrophic dysplasia
resolves10.1002/humu.1
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
resolves10.1007/s004390050279
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia
resolves10.1038/ng0196-100
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
The 5 references without a DOI — listed, not checked
no DOI — not checkedAchondrogenesis type IB. Agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype
no DOI — not checkedRadiology of syndromes, metabolic disorders, and skeletal dysplasias
no DOI — not checkedLe nanisme diastrophique
no DOI — not checkedOnline Mendelian Inheritance in Man OMIM (TM). Johns Hopkins University Baltimore MD. MIM Number: {#256050}: {2/27/2002 Date last edited}: World Wide Web URL:http://www.ncbi.nlm.nih.gov/omim/
no DOI — not checkedThe metabolic and molecular bases of inherited disease
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