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UnknownHereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis.
Not available
S-EPMC9944132 | biostudies-literature
UnknownHepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis.
Not available
S-EPMC3558090 | biostudies-literature
UnknownCase Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
Not available
S-EPMC9411639 | biostudies-literature
UnknownNovel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.
Not available
S-EPMC2563207 | biostudies-literature
UnknownPhenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Not available
S-EPMC9394309 | biostudies-literature
UnknownNeoplasia in Cri du Chat Syndrome from Italian and German Databases.
Not available
S-EPMC5420919 | biostudies-literature
UnknownBioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.
Not available
S-EPMC3196573 | biostudies-literature
UnknownChildren and adults affected by Cri du Chat syndrome: Care's recommendations.
Not available
S-EPMC6397997 | biostudies-literature
UnknownEarly onset of a nasal perivascular epithelioid cell neoplasm not related to tuberous sclerosis complex.
Not available
S-EPMC3385057 | biostudies-literature
UnknownGenotype-phenotype correlation in Pompe disease, a step forward.
Not available
S-EPMC4249737 | biostudies-literature
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