Zobrazeno 1 - 10
of 4 637
pro vyhledávání: '"splice‐site mutation"'
Autor:
Maria Fourikou, Aristea Karipiadou, Athina Ververi, Parthena Savvidou, Nikolaos Laliotis, Vassilios Tsitouras, Stella Stabouli, Emmanuel Roilides, Konstantinos Kollios
Publikováno v:
Bone Reports, Vol 20, Iss , Pp 101731- (2024)
X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal phosphate wasting, hypophosphatemia, abnormal vitamin D metabolism, growth retardation and
Externí odkaz:
https://doaj.org/article/20b6e610127548acadfb8967d705a950
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
BackgroundMandibuloacral dysplasia (MAD) syndrome is a rare genetic disease. Several progeroid syndromes including mandibuloacral dysplasia type A (MADA), mandibuloacral dysplasia type B(MADB), Hutchinson-Gilford progeria (HGPS) and mandibular hypopl
Externí odkaz:
https://doaj.org/article/eeff7e97e36b4fdbafa3861119eb0a2c
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-10 (2023)
Abstract Background Hearing loss is a rare hereditary deficit that is rather common among consanguineous populations. Autosomal recessive non-syndromic hearing loss is the predominant form of hearing loss worldwide. Although prevalent, hearing loss i
Externí odkaz:
https://doaj.org/article/9844d87463d34aa580257b0829e3ac7c
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the GATA3 gene. We report an 11-year-old girl with HDR syndrom
Externí odkaz:
https://doaj.org/article/a7df735ee3134e86aeb39bef34d0f5f8
Publikováno v:
Hematology Reports, Vol 14, Iss 2, Pp 172-178 (2022)
Congenital CD59 deficiency is a recently described rare autosomal recessive disease associated with CD59 gene mutations that lead to deficient or dysfunctional CD59 protein on the cell surface. The disease is characterized by the early onset of chron
Externí odkaz:
https://doaj.org/article/390895d966db4b9081dfd26fcb27fd92
Publikováno v:
BMC Ophthalmology, Vol 22, Iss 1, Pp 1-11 (2022)
Abstract Background Oguchi disease is a rare type of congenital stationary night blindness associated with an abnormal fundus appearance. It is inherited in an autosomal recessive manner where two types exist according to the gene affected; type 1 as
Externí odkaz:
https://doaj.org/article/bd4e86fecd8e402a9d4e6bfbaa2a37c3
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-6 (2022)
Abstract Background Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect. Gene defections have been found in patients with LVNC and their family members; and MYH7 is the most frequent gene associated with LVNC. Meth
Externí odkaz:
https://doaj.org/article/494569acc0ae4ea8b670cc46e050a5ee
Autor:
Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, Simona Ferrari, Maria Accadia, Reha M. Toydemir, Emanuele Panza
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Because CHARGE syndrome is characterized by high clinical variability, molecular confirmation of the clinical diagnosis is of pivotal importance. Most patients have a pathogenic variant in the CHD7 gene; however, variants are distributed
Externí odkaz:
https://doaj.org/article/a83487949347444bb6468d2fc8217d59
Publikováno v:
Acta Dermato-Venereologica, Vol 103 (2023)
Abstract is missing (Short communication)
Externí odkaz:
https://doaj.org/article/e92c6900e46d401490a698bfbe2325d6
Autor:
Dennis Yeow, Matthew Katz, Robert Henderson, Sandhir Prasad, Russell Denman, Stefan Blum, Mark Davis, Thomas Robertson, Pamela McCombe
Publikováno v:
Frontiers in Neurology, Vol 13 (2023)
The DES gene encodes desmin, a key intermediate filament of skeletal, cardiac and smooth muscle. Pathogenic DES variants produce a range of skeletal and cardiac muscle disorders collectively known as the desminopathies. We report three desminopathy c
Externí odkaz:
https://doaj.org/article/efe065c33a7949669faef29a3555a709