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Autosomal ichthyosis syndrome with other associated signs

MedGen UID:
1842465
Concept ID:
C5681024
Disease or Syndrome
Orphanet: ORPHA281244

Professional guidelines

PubMed

Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G
Orphanet J Rare Dis 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. PMID: 26381864Free PMC Article

Recent clinical studies

Etiology

Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Lambert WC, Gagna CE, Lambert MW
Adv Exp Med Biol 2010;685:106-10. doi: 10.1007/978-1-4419-6448-9_10. PMID: 20687499

Diagnosis

Alaverdian DA, Fedyakov M, Polennikova E, Ivashchenko T, Shcherbak S, Urasov S, Tsay V, Glotov OS
Drug Metab Pers Ther 2019 Dec 18;34(4) doi: 10.1515/dmpt-2019-0008. PMID: 31967959
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G
Orphanet J Rare Dis 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. PMID: 26381864Free PMC Article
Lambert WC, Gagna CE, Lambert MW
Adv Exp Med Biol 2010;685:106-10. doi: 10.1007/978-1-4419-6448-9_10. PMID: 20687499
Al-Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani M
Am J Med Genet A 2008 Apr 1;146A(7):813-9. doi: 10.1002/ajmg.a.32114. PMID: 18271001

Prognosis

Ilhan O, Ozer EA, Ozdemir SA, Akbay S, Memur S, Kanar B, Tatli MM
Arch Argent Pediatr 2016 Feb;114(1):e9-12. doi: 10.5546/aap.2016.eng.e9. PMID: 26914089
Takeichi T, Nanda A, Aristodemou S, McMillan JR, Lee J, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA
Br J Dermatol 2015;172(5):1407-11. Epub 2015 Mar 7 doi: 10.1111/bjd.13473. PMID: 25308318
Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M
Pediatrics 2006 Feb;117(2):e322-7. Epub 2006 Jan 3 doi: 10.1542/peds.2005-1973. PMID: 16390921

Clinical prediction guides

Liu J, Ni W, Deng K, Chen Y, Gu G
Clin Biochem 2024 Mar;125:110735. Epub 2024 Feb 22 doi: 10.1016/j.clinbiochem.2024.110735. PMID: 38401771
Lazic T, Horii KA, Richard G, Wasserman DI, Antaya RJ
Pediatr Dermatol 2008 Sep-Oct;25(5):535-40. doi: 10.1111/j.1525-1470.2008.00767.x. PMID: 18950394
Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M
Pediatrics 2006 Feb;117(2):e322-7. Epub 2006 Jan 3 doi: 10.1542/peds.2005-1973. PMID: 16390921

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