A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
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چکیده
منابع مشابه
MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.
MOTA syndrome, the acronym for Manitoba-oculo-tricho-anal syndrome (OMIM 248450), is a distinct autosomal recessive multiple malformation syndrome caused by mutations in the FREM1 gene (OMIM 608944). Eight patients with MOTA syndrome and a pathogenic FREM1 mutation have previously been documented. We report on a new male patient, 3.5 months old, with MOTA syndrome, who presented with the follow...
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During embryonic life, events may alter the normal growth and fusion of the endocardial tube, the paired dorsal aortae, and the vitelline plexus, leading to anomalies and variants of the mature axial arterial system.1 Many of these are well known, especially those associated with the aorta, heart, and umbilical artery.1,2 Vitelline variants have also been found that are either associated with M...
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Introduction Autoinflammatory disorders are a group of diseases whose nosology and etiology are only partly understood. Among Mendelian forms, familial Mediterranean fever (FMF), due to mutations in MEFV, is one of the most frequent. Most MEFV mutations are located in exon 10 and are usually associated with an autosomal recessive mode of inheritance. MEFV encodes pyrin, which interacts with PST...
متن کاملIdentification of a Novel CLCNKB Mutation in an Iranian Family with Bartter Syndrome Type 3.
Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...
متن کاملInternal Hernia of the Greater Omentum: Cadaveric Findings of a Previously Unreported Variant
Transomental hernias (TOHs) are a rare finding, constituting a fraction of all intestinal hernias. Here, we report the cadaveric discovery of a spontaneous TOH involving the sigmoid colon in an 82-year-old female and discuss the relevant literature. To our knowledge, a TOH involving the sigmoid colon has not been previously reported.
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2021
ISSN: 0009-9163,1399-0004
DOI: 10.1111/cge.13880