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UnknownPathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
Not available
S-EPMC11041597 | biostudies-literature
UnknownDanon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.
Not available
S-EPMC1768382 | biostudies-literature
UnknownNovel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
Not available
S-EPMC3330215 | biostudies-literature
UnknownIdentification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Not available
S-EPMC3638942 | biostudies-literature
UnknownMolecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Not available
S-EPMC4413937 | biostudies-literature
UnknownTTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Not available
S-EPMC7011118 | biostudies-literature
UnknownRare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Not available
S-EPMC7039996 | biostudies-literature
UnknownCongenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Not available
S-EPMC4430466 | biostudies-literature
UnknownMutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Not available
S-EPMC4970687 | biostudies-literature
UnknownDe novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Not available
S-EPMC3677859 | biostudies-literature
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