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UnknownClinical utility gene card for: 3-M syndrome - update 2013.
Not available
S-EPMC3953895 | biostudies-literature
UnknownTbx4 function during hindlimb development reveals a mechanism that explains the origins of proximal limb defects.
Not available
S-EPMC8497778 | biostudies-literature
UnknownBisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
Not available
S-EPMC5885380 | biostudies-literature
UnknownThe disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis.
Not available
S-EPMC4795241 | biostudies-literature
UnknownPost-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia.
Not available
S-EPMC6558385 | biostudies-literature
UnknownNail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
Not available
S-EPMC4795216 | biostudies-literature
UnknownDe novo mutations in MLL cause Wiedemann-Steiner syndrome.
Not available
S-EPMC3415539 | biostudies-literature
UnknownIdentification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.
Not available
S-EPMC6363664 | biostudies-literature
UnknownIncreased adipogenesis in cultured embryonic chondrocytes and in adult bone marrow of dominant negative Erg transgenic mice.
Not available
S-EPMC3498236 | biostudies-literature
UnknownA hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.
Not available
S-EPMC7908803 | biostudies-literature
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