Read more about the article A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity.
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A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity.

Abstract Heterozygous mutations on the melanocortin-4-receptor gene (MC4R) are the most frequent cause of monogenic obesity. We describe a novel MC4R deletion in a girl with severe early onset obesity,…

Continue ReadingA novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity.
Read more about the article Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
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Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.

Abstract Congenital adrenal hyperplasia (CAH) is an endocrine autosomal recessive disorder with various symptoms of diverse severity. Mild hyperandrogenemia is the most commonclinical feature in non-classic CAH patients and 95%…

Continue ReadingGenetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
Read more about the article Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.
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Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.

Abstract Prader-Willi syndrome is a rare syndrome characterized by hypotonia, developmental delay and excessive appetite. This syndrome is caused by the loss of function of paternally-expressed genes located in an…

Continue ReadingDeletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.
Read more about the article NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion.
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NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion.

Abstract We report the first patient with an interstitial deletion of chromosome 15q24.1-q24.3 associated with common variable immunodeficiency (CVID). The 18-year old female patient's clinical and immunological phenotype was compared…

Continue ReadingNEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion.
Read more about the article Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.
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Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.

Abstract Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial…

Continue ReadingNovel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.
Read more about the article A novel MKRN3 nonsense mutation causing familial central precocious puberty.
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A novel MKRN3 nonsense mutation causing familial central precocious puberty.

Abstract

Continue ReadingA novel MKRN3 nonsense mutation causing familial central precocious puberty.
Read more about the article Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
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Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

Abstract Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been…

Continue ReadingIdentification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
Read more about the article Successful use of tocilizumab in two cases of severe autoinflammatory disease with a single copy of the Mediterranean fever gene.
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Successful use of tocilizumab in two cases of severe autoinflammatory disease with a single copy of the Mediterranean fever gene.

Abstract

Continue ReadingSuccessful use of tocilizumab in two cases of severe autoinflammatory disease with a single copy of the Mediterranean fever gene.
Read more about the article GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype.
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GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype.

Abstract This case report describes a 47,XXX girl who presented very early, at the age of 14 months, with signs of sexual precocity (breast and pubic hair development, menarche) and…

Continue ReadingGnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype.