Zobrazeno 1 - 10
of 4 636
pro vyhledávání: '"splice‐site mutation"'
Publikováno v:
Basic and Clinical Andrology, Vol 34, Iss 1, Pp 1-8 (2024)
Abstract Background Acephalic spermatozoa syndrome is a rare but severe type of teratozoospermia. The familial trait of acephalic spermatozoa syndrome suggests that genetic factors play an important role. However, known mutations account for only som
Externí odkaz:
https://doaj.org/article/a0a37306841d45d9ba10cd66b39f50a4
Publikováno v:
Heliyon, Vol 10, Iss 22, Pp e40277- (2024)
Pathogenic genes in most patients with cleidocranial dysplasia have been confirmed to be runt-related transcription factor 2 (RUNX2), which controls mutations in specific osteoblast transcription factors and affects skull ossification and suture adhe
Externí odkaz:
https://doaj.org/article/6ae19b42480c4e6bb9d515aa42a2e021
Autor:
Wang, Jing a, Li, Qiuying a, Li, Hongyu b, Liu, Xiu b, c, Hu, Ying b, Bai, Yuxing a, Yang, Kai a, ⁎
Publikováno v:
In Heliyon 30 November 2024 10(22)
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
Akademický článek
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Akademický článek
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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