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Germline mutations in HRAS proto-oncogene cause Costello syndrome
Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors. We identified fourExpand
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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, whichExpand
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Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1 and maternally expressed genes (MEGs) such as MEG3 (also known asExpand
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Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival, and differentiation. Recent studies have revealed that germline mutations and mosaicism for classicalExpand
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[Metachromatic leukodystrophy].
Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system thatExpand
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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability.Expand
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Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion
Sotos syndrome (SoS) is an autosomal dominant overgrowth syndrome with characteristic craniofacial dysmorphic features and various degrees of mental retardation. We previously showed thatExpand
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Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
Noonan syndrome (NS) and related disorders are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. The dysregulation ofExpand
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Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus‐Merzbacher‐like disease
Mutations in the gap junction protein gamma‐2 gene, GJC2, cause a central hypomyelinating disorder; Pelizaeus‐Merzbacher‐like disease (PMLD; MIM311601). Using a homozygosity mapping and positionalExpand
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Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
CONTEXT CHARGE syndrome is a complex of congenital malformations, and CHD7 has been reported as a major gene involved in the etiology. OBJECTIVE We performed endocrine and radiological studies toExpand
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