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7. Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature. Vasconcelos AP; Nogueira A; Matos P; Pinto J; Pinho MJ; Fernandes S; Dória S; Pinto Moura C Eur J Med Genet; 2023 Oct; 66(10):104827. PubMed ID: 37657632 [TBL] [Abstract][Full Text] [Related]
8. Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. Heinz L; Kim GJ; Marrakchi S; Christiansen J; Turki H; Rauschendorf MA; Lathrop M; Hausser I; Zimmer AD; Fischer J Am J Hum Genet; 2017 Jun; 100(6):926-939. PubMed ID: 28575648 [TBL] [Abstract][Full Text] [Related]
9. MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1. Ito Y; Takeichi T; Igari S; Mori T; Ono A; Suyama K; Takeuchi S; Muro Y; Ogi T; Hosoya M; Yamamoto T; Akiyama M J Eur Acad Dermatol Venereol; 2021 May; 35(5):e345-e347. PubMed ID: 33349978 [No Abstract] [Full Text] [Related]
10. Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome. Alter S; Hotz A; Jahn A; Di Donato N; Schröck E; Smitka M; von der Hagen M; Schallner J; Menschikowski M; Gillitzer C; Laass MW; Fischer J; Tzschach A Am J Med Genet A; 2018 Dec; 176(12):2862-2866. PubMed ID: 30561130 [TBL] [Abstract][Full Text] [Related]
11. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. Assoum M; Philippe C; Isidor B; Perrin L; Makrythanasis P; Sondheimer N; Paris C; Douglas J; Lesca G; Antonarakis S; Hamamy H; Jouan T; Duffourd Y; Auvin S; Saunier A; Begtrup A; Nowak C; Chatron N; Ville D; Mireskandari K; Milani P; Jonveaux P; Lemeur G; Milh M; Amamoto M; Kato M; Nakashima M; Miyake N; Matsumoto N; Masri A; Thauvin-Robinet C; Rivière JB; Faivre L; Thevenon J Am J Hum Genet; 2016 Dec; 99(6):1368-1376. PubMed ID: 27889060 [TBL] [Abstract][Full Text] [Related]
12. Analysis of three μ1-AP1 subunits during zebrafish development. Gariano G; Guarienti M; Bresciani R; Borsani G; Carola G; Monti E; Giuliani R; Rezzani R; Bonomini F; Preti A; Schu P; Zizioli D Dev Dyn; 2014 Feb; 243(2):299-314. PubMed ID: 24123392 [TBL] [Abstract][Full Text] [Related]
13. Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. Pigors M; Sarig O; Heinz L; Plagnol V; Fischer J; Mohamad J; Malchin N; Rajpopat S; Kharfi M; Lestringant GG; Sprecher E; Kelsell DP; Blaydon DC Am J Hum Genet; 2016 Aug; 99(2):430-6. PubMed ID: 27476651 [TBL] [Abstract][Full Text] [Related]
14. Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome. Izumi K; Wilkens A; Treat JR; Pride HB; Krantz ID Pediatr Dermatol; 2013; 30(6):e263-4. PubMed ID: 23551428 [TBL] [Abstract][Full Text] [Related]
16. Deletion mutants of AP-1 adaptin subunits display distinct phenotypes in fission yeast. Ma Y; Takeuchi M; Sugiura R; Sio SO; Kuno T Genes Cells; 2009 Aug; 14(8):1015-28. PubMed ID: 19624755 [TBL] [Abstract][Full Text] [Related]
17. Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2. Fong K; Takeichi T; Liu L; Pramanik R; Lee J; Akiyama M; McGrath JA Clin Exp Dermatol; 2015 Jul; 40(5):529-32. PubMed ID: 25683132 [TBL] [Abstract][Full Text] [Related]
18. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred. Ming A; Happle R; Grzeschik KH; Fischer G Pediatr Dermatol; 2009; 26(4):427-31. PubMed ID: 19689518 [TBL] [Abstract][Full Text] [Related]
19. A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome. Jiang Y; Jin H; Zeng Y Mol Genet Genomic Med; 2019 Aug; 7(8):e812. PubMed ID: 31215178 [TBL] [Abstract][Full Text] [Related]
20. A novel MBTPS2 start codon mutation causes a mild ichthyosis follicularis with atrichia and photophobia phenotype. Chen F; Wang J; Yao Z; Li M Clin Exp Dermatol; 2020 Jun; 45(4):505-507. PubMed ID: 31646662 [No Abstract] [Full Text] [Related] [Next] [New Search]