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Article

Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.

American journal of medical genetics - 16 Jun 1998

Cai G, Nakayama M, Hiraki Y, Ozono K

Abstract excerpt

We describe a diastrophic dysplasia (DTDST) gene mutation in a Japanese male fetus with achondrogenesis type 1B and his relatives. Diagnosis in the fetus was based on roentgenographic data and pathological findings of bones and cartilage. Nucleotide sequencing of the DTDST gene demonstrated that the fetus was homozygous for both delVal340 and Thr689Ser and his parents and a healthy brother were heterozygous for...

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PMID: 9637425

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Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.PMID 9637425Read ↗

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A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.Semantic proximity Read ↗

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