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UnknownPycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.
Not available
S-EPMC5809170 | biostudies-literature
UnknownA novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
Not available
S-EPMC4970677 | biostudies-literature
UnknownNovel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Not available
S-EPMC8747999 | biostudies-literature
UnknownNovel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.
Not available
S-EPMC12669723 | biostudies-literature
UnknownClinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Not available
S-EPMC5945775 | biostudies-literature
UnknownA data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Not available
S-EPMC10052794 | biostudies-literature
UnknownGenetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.
Not available
S-EPMC7617588 | biostudies-literature
UnknownDeficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Not available
S-EPMC8024261 | biostudies-literature
UnknownBiallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
Not available
S-EPMC7791037 | biostudies-literature
UnknownNovel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Not available
S-EPMC5686170 | biostudies-literature
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