Zobrazeno 1 - 10
of 290
pro vyhledávání: '"infantile systemic hyalinosis"'
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 25, Iss 2, Pp 128-131 (2024)
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by widespread hyaline deposition in various tissues, resulting in multi-organ dysfunction. We present a case of a 6-month-old male child with minimal limb moveme
Externí odkaz:
https://doaj.org/article/e37e7399a818433caf35ea17f4d7f44c
Autor:
Fatemeh Owlia, Alireza Navabazam, Mohammad-Hasan akhavan-karbasi, Mohammad Moein Derakhshan Barjoei
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Background Zimmermann-Laband Syndrome (ZLS) and infantile systemic hyalinosis (ISH) are rare genetic disorders. They are characterized by various spectrum manifestations. In spite of other case reports, this case with features of both syndro
Externí odkaz:
https://doaj.org/article/edc892a7bfd8473195c3db690a73d1e1
Publikováno v:
Journal of Dermatology and Dermatologic Surgery, Vol 27, Iss 2, Pp 78-81 (2023)
Infantile systemic hyalinosis (ISH) is a rare fatal autosomal recessive disorder characterized by hyaline deposition in the skin and internal organs. Children with ISH usually present to orthopedicians due to decreased and painful limb movements with
Externí odkaz:
https://doaj.org/article/c37cc20d7fe64d149df466ec5606ed27
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 24, Iss 2, Pp 147-149 (2023)
Infantile systemic hyalinosis (ISH) is an extremely rare disorder inherited in an autosomal recessive manner. The syndrome clinically presents with multiple joint contractures with chronic severe pain, papulonodular skin lesions, hypotonia, gingival
Externí odkaz:
https://doaj.org/article/79b669a2cee24c9ca691e9aa36188283
Akademický článek
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Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 23, Iss 2, Pp 126-128 (2022)
Infantile systemic hyalinosis (ISH; MIM #236490) and juvenile hyaline fibromatosis (MIM #228600) represent two spectrums of the rare autosomal recessive disorder, the hyaline fibromatosis syndrome caused by mutations in ANTXR2/CMG2 encoding capillary
Externí odkaz:
https://doaj.org/article/5003a1e4a4f54acf9ca4f13fe47675a7
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract Background Hyaline fibromatosis syndrome is a rare autosomal recessive disorder with ANTXR2 mutations characterised by the accumulation of hyaline substances in tissues. We present a case with the severe form—infantile systemic hyalinosis
Externí odkaz:
https://doaj.org/article/0e8230d485bd4691a45d152c3decb2e0
Autor:
Ali Al Kaissi, Marwa Hilmi, Zulfiya Betadolova, Sami Bouchoucha, Svetlana Trofimova, Mohammad Shboul, Guseyn Rustamov, Wiam Dwera, Katharina Sigl, Vladimir Kenis, Susanne Gerit Kircher
Publikováno v:
African Journal of Paediatric Surgery, Vol 18, Iss 4, Pp 224-230 (2021)
Background: Infantile systemic hyalinosis (ISH) is an autosomal recessively inherited disorder. The classical natural history of the disease is characterised by hypotonia, multiple contractures, skin lesions, osteopenia, joint pain, bone fractures, p
Externí odkaz:
https://doaj.org/article/11666cef287646cda2cd50ae5c176c17
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 2, Pp 108-112 (2020)
Background: Infantile systemic hyalinosis (ISH), an allelic form of hyaline fibromatosis syndrome, is a rare fatal autosomal recessive disorder that is caused by mutations in the CMG2/ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2. I
Externí odkaz:
https://doaj.org/article/b7d9c2fc45c54dcf84ec69ee2b0faab0
Akademický článek
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