Zobrazeno 1 - 10
of 100
pro vyhledávání: '"brachyolmia"'
Autor:
Didem Helvacıoğlu, Tülay Güran
Publikováno v:
JCRPE, Vol 16, Iss 1, Pp 4-10 (2024)
3'-Phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2) deficiency is a rare disorder due to biallelic pathogenic variants in the PAPSS2 gene. This disorder was first described in 1998 by Ahmad et al. and Faiyaz ul Haque et al. To date, 79 patients
Externí odkaz:
https://doaj.org/article/4ad4f01e7aa044138f97f7d9f79ac8a5
Autor:
Hamed Nawaz, Asia Parveen, Sher Alam Khan, Abul Khair Zalan, Muhammad Adnan Khan, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Rasha M. Elhossini, Nehal Nabil Roshdy, Asmat Ullah, Amina Arif, Saadullah Khan, Ole Ammerpohl, Naveed Wasif
Publikováno v:
Heliyon, Vol 10, Iss 1, Pp e23688- (2024)
Brachyolmia is a heterogeneous group of developmental disorders characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly without significant deformities in the long bones. DASS (Dental Abnormalities and Short Stature),
Externí odkaz:
https://doaj.org/article/0f91f966fd7d4676bcf74cad84128e34
Akademický článek
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Akademický článek
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Autor:
Saima Mustafa, Malik Fiaz Hussain, Muhammad Latif, Maryam Ijaz, Muhammad Asif, Mubashir Hassan, Muhammad Faisal, Furhan Iqbal
Publikováno v:
Genes; Volume 13; Issue 11; Pages: 2096
Background: Brachyolmia is a skeletal disorder with an autosomal mode of inheritance (both dominant and recessive) in which the patients have a short height, scoliosis and a reduced trunk size. Methods: From the Muzaffargarh District in Pakistan, a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1dce5f09b2e23f050020ce334ef73f
https://doi.org/10.3390/genes13112096
https://doi.org/10.3390/genes13112096
Autor:
Simone Pizzi, Daniela Rogaia, Amedea Mencarelli, Giuseppe Merla, Maria Giovanna Tedesco, Valentina Imperatore, Alessandro Bruselles, Elisabetta Flex, Giuseppe Di Cara, Marco Tartaglia, Andrea Ciolfi, Stefania Troiani, Alberto Verrotti, Paolo Prontera, Giovanna Carpentieri
Publikováno v:
Genes, Vol 12, Iss 1406, p 1406 (2021)
In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1476327de32abd776bcd30df6fe1086
https://www.mdpi.com/2073-4425/12/9/1406
https://www.mdpi.com/2073-4425/12/9/1406
Autor:
Elisabetta, Flex, Valentina, Imperatore, Giovanna, Carpentieri, Alessandro, Bruselles, Andrea, Ciolfi, Simone, Pizzi, Maria Giovanna, Tedesco, Daniela, Rogaia, Amedea, Mencarelli, Giuseppe, Di Cara, Alberto, Verrotti, Stefania, Troiani, Giuseppe, Merla, Marco, Tartaglia, Paolo, Prontera
Publikováno v:
Genes
In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b9ffe96533f21e27f9441aab97771aa7
https://pubmed.ncbi.nlm.nih.gov/34573388
https://pubmed.ncbi.nlm.nih.gov/34573388
Autor:
Madhulika Kabra, Ishrat Siddiqui, Ravneet Kaur, Neerja Gupta, Vijay Prakash Mathur, Manisha Jana
Publikováno v:
American Journal of Medical Genetics Part A. 182:1944-1946
Dental anomalies and short stature (DASS) has been recently identified as a distinct entity, associated with bi-allelic hypomorphic variants in LTBP3 gene. Only 20 individuals from nine families have been previously reported, with a consistent phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f8f7b776919739b86b55b9e22c17765
https://doi.org/10.1002/ajmg.a.61629
https://doi.org/10.1002/ajmg.a.61629
Akademický článek
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Autor:
Koray Boduroğlu, Gizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Goknur Haliloglu, Ibrahim Oncel, Gülen Eda Utine
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 32
TRPV4-related disorders constitute a broad spectrum of clinical phenotypes including several genetic skeletal and neuromuscular disorders, in which clinical variability and somewhat overlapping features are present. These disorders have previously be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67145dbff2f537f0547a5e9ce2e8507
https://pubmed.ncbi.nlm.nih.gov/33774370
https://pubmed.ncbi.nlm.nih.gov/33774370