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Keywords: Mutation
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Journal Articles
Journal Articles
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Mol Syndromol (2022) 13 (4): 343–349.
Published Online: 02 March 2022
... matter loss, thin corpus callosum, delayed myelination, and poor prognosis. This syndrome is caused by biallelic loss-of-function mutations in the NUP188 gene. Case Presentation: In the physical examination of our patient, whose mother and father were third-degree relatives, hypotonia, bilateral...
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Mol Syndromol (2016) 7 (1): 3–11.
Published Online: 12 April 2016
... exonic point mutations account for a small percentage of cases. The clinical severity of SHOX haploinsufficiency reflects hormonal conditions rather than mutation types. Growth hormone treatment seems to be beneficial for cases with SHOX haploinsufficiency, although the long-term outcomes of this therapy...
Journal Articles
Mol Syndromol (2015) 6 (1): 32–38.
Published Online: 21 January 2015
..., distinctive facial features and variable degree of intellectual disability. Haploinsufficiency of the NSD1 gene at 5q35.3, arising from 5q35 microdeletions, point mutations, and partial gene deletions, accounts for a majority of patients with SoS. Recently, mutations and possible pathogenetic rare CNVs, both...
Journal Articles
Mol Syndromol (2014) 5 (6): 259–267.
Published Online: 26 August 2014
... (enchondromas) in association with cutaneous spindle cell hemangiomas. These patients have a high incidence of malignant transformation. No familial case is known and the etiopathogenic cause remains unknown. In enchondromatosis (Ollier disease, OD), which is comprised of enchondromas only, 4 mutations...
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Journal Articles
Mol Syndromol (2014) 5 (1): 36–40.
Published Online: 04 October 2013
...E. Martínez-Quintana; F. Rodríguez-González; P. Garay-Sánchez; A. Tugores CHARGE syndrome is a rare congenital condition characterized by 6 cardinal features: coloboma, heart defect, atresia choanae, retarded growth and development, genital anomalies, and ear anomalies/deafness. Mutations...
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Journal Articles
Mol Syndromol (2013) 4 (4): 203–206.
Published Online: 13 February 2013
..., diagnosis, management, and outcome of 2 siblings with MPS II and the G374sp mutation at the nucleotide c.1246 of the gene encoding for the iduronate-2-sulfatase. Congenital metabolic disorders result from the absence or abnormality of an enzyme or its cofactor, leading to either accumulation...
Journal Articles
Mol Syndromol (2013) 4 (3): 148–151.
Published Online: 30 January 2013
..., the question whether SMD-A belongs to type II collagenopathy (a group of disorders due to a heterozygous mutation of - COL2A1 ) has been continuously under debate. Here we report a 7-year-old Japanese boy with a heterozygous missense mutation in COL2A1 , 2582G>T (Gly861Val), whose phenotype matched...
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Mol Syndromol (2012) 3 (5): 215–222.
Published Online: 08 November 2012
... by the disease. The estimated prevalence of SLO syndrome ranges between 1:20,000 and 1:40,000 among Caucasians. Although the mutational spectrum of the disease is wide, approximately 10 mutations are responsible for more than 80% of the cases. These mutations show a large interethnic variability...
Journal Articles
Mol Syndromol (2012) 3 (4): 145–157.
Published Online: 29 August 2012
...E. Martínez-Quintana; F. Rodríguez-González The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic...
Journal Articles
Mol Syndromol (2012) 3 (1): 30–33.
Published Online: 16 May 2012
...E. Athanasakis; A. Fabretto; F. Faletra; M. Mocenigo; A. Morgan; P. Gasparini Cohen syndrome (CS) is an autosomal recessive disease caused by mutations in the COH1 gene. It is characterized by intellectual disability, hypotonia, joint hyperlaxity, severe myopia, characteristic facial dysmorphisms...