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4. Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1. Faghihi F; Khamirani HJ; Zoghi S; Kamal N; Yeganeh BS; Dianatpour M; Bagher Tabei SM; Dastgheib SA Eur J Med Genet; 2022 Mar; 65(3):104449. PubMed ID: 35144013 [TBL] [Abstract][Full Text] [Related]
5. Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. Alsaif HS; Al-Owain M; Barrios-Llerena ME; Gosadi G; Binamer Y; Devadason D; Ravenscroft J; Suri M; Alkuraya FS Am J Hum Genet; 2019 Nov; 105(5):1016-1022. PubMed ID: 31630791 [TBL] [Abstract][Full Text] [Related]
6. MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features. Incecik F; Bisgin A; Yılmaz M Metab Brain Dis; 2018 Dec; 33(6):2065-2068. PubMed ID: 30244301 [TBL] [Abstract][Full Text] [Related]
7. A splice-site variant in ANKRD11 associated with classical KBG syndrome. Low KJ; Hills A; Williams M; Duff-Farrier C; McKee S; Smithson SF Am J Med Genet A; 2017 Oct; 173(10):2844-2846. PubMed ID: 28815928 [No Abstract] [Full Text] [Related]
8. Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. Kabzińska D; Mierzewska H; Senderek J; Kochański A Folia Neuropathol; 2016; 54(3):273-281. PubMed ID: 27764520 [TBL] [Abstract][Full Text] [Related]
9. Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome. Vornweg J; Gläser S; Ahmad-Anwar M; Zimmer AD; Kuhn M; Hörer S; Korenke GC; Grothaus J; Ott H; Fischer J Br J Dermatol; 2021 Jun; 184(6):1190-1192. PubMed ID: 33452671 [No Abstract] [Full Text] [Related]
10. 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]
11. Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome. Cianci P; Pezzoli L; Maitz S; Agosti M; Iascone M; Selicorni A Clin Dysmorphol; 2020 Apr; 29(2):101-103. PubMed ID: 31567426 [No Abstract] [Full Text] [Related]
12. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature. Cleaver R; Berg J; Craft E; Foster A; Gibbons RJ; Hobson E; Lachlan K; Naik S; Sampson JR; Sharif S; Smithson S; ; Parker MJ; Tatton-Brown K Am J Med Genet A; 2019 Mar; 179(3):344-349. PubMed ID: 30637921 [TBL] [Abstract][Full Text] [Related]
13. Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips. Fryns JP J Med Genet; 1989 Nov; 26(11):722-4. PubMed ID: 2585470 [No Abstract] [Full Text] [Related]
14. [Speech impairment and the Smith-Magenis syndrome]. Bergmann C; Morlot S; Ptok M HNO; 2007 Aug; 55(8):644-6. PubMed ID: 16767429 [TBL] [Abstract][Full Text] [Related]
15. A patient with 9q subtelomeric deletion syndrome with additional findings. Tug E; Cavdarli B; Karaoguz MY; Percin FE Genet Couns; 2012; 23(4):465-71. PubMed ID: 23431745 [TBL] [Abstract][Full Text] [Related]
16. [Clinical polymorphism of the Waardenburg-Klein syndrome in children]. Bliumina MG Pediatriia; 1987; (3):78-81. PubMed ID: 3601544 [No Abstract] [Full Text] [Related]
17. Non-progressive mental retardation and peripheral neuropathy in a mother and her son. Longman C; Tolmie J; McWilliam R Clin Dysmorphol; 2001 Oct; 10(4):273-6. PubMed ID: 11666002 [TBL] [Abstract][Full Text] [Related]
18. Siblings with prune belly syndrome and associated pulmonic stenosis, mental retardation, and deafness. Lockhart JL; Reeve HR; Bredael JJ; Krueger RP Urology; 1979 Aug; 14(2):140-2. PubMed ID: 157583 [TBL] [Abstract][Full Text] [Related]
19. Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant. Karaer K Clin Dysmorphol; 2020 Oct; 29(4):189-192. PubMed ID: 32657847 [TBL] [Abstract][Full Text] [Related]
20. Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies in a mother and son. Kawashima H; Tsuji N Clin Genet; 1987 May; 31(5):303-7. PubMed ID: 3608216 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]