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UnknownRenal involvement and Stromme syndrome.
Not available
S-EPMC7857842 | biostudies-literature
UnknownThrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.
Not available
S-EPMC4635577 | biostudies-literature
UnknownMultiple endocrine neoplasias type 2B and RET proto-oncogene.
Not available
S-EPMC3368781 | biostudies-literature
UnknownNeurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
Not available
S-EPMC8490884 | biostudies-literature
UnknownClinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.
Not available
S-EPMC4457201 | biostudies-literature
UnknownCase Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Not available
S-EPMC7930735 | biostudies-literature
UnknownP63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development.
Not available
S-EPMC6914664 | biostudies-literature
UnknownAssessment of copy number variations in 120 patients with Poland syndrome.
Not available
S-EPMC5123256 | biostudies-literature
UnknownVariants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.
Not available
S-EPMC4970688 | biostudies-literature
UnknownDifferent TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
Not available
S-EPMC15870 | biostudies-literature
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