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181 related items for PubMed ID: 33010201
1. Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report. Cavole TR, Perrone E, de Faria Soares MF, Dias da Silva MR, Maeda SS, Lazaretti-Castro M, Alvarez Perez AB. Am J Med Genet A; 2020 Dec; 182(12):3029-3034. PubMed ID: 33010201 [Abstract] [Full Text] [Related]
2. [Kenny-Caffey syndrome and its related syndromes]. Isojima T, Kitanaka S. Nihon Rinsho; 2015 Nov; 73(11):1959-64. PubMed ID: 26619675 [Abstract] [Full Text] [Related]
4. Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. Ajarmeh SA, Al Tamimi EM. J Pediatr Endocrinol Metab; 2018 Apr 25; 31(5):581-584. PubMed ID: 29494340 [Abstract] [Full Text] [Related]
8. Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement. Diaz GA, Gelb BD, Ali F, Sakati N, Sanjad S, Meyer BF, Kambouris M. Am J Med Genet; 1999 Jul 02; 85(1):48-52. PubMed ID: 10377012 [Abstract] [Full Text] [Related]
9. Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. Nikkel SM, Ahmed A, Smith A, Marcadier J, Bulman DE, Boycott KM. Clin Genet; 2014 Oct 02; 86(4):394-5. PubMed ID: 24635597 [No Abstract] [Full Text] [Related]
10. A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review. Ryabets-Lienhard A, Issaranggoon Na Ayuthaya S, Graham JM, Pitukcheewanont P. Am J Med Genet A; 2018 Aug 02; 176(8):1768-1772. PubMed ID: 30055029 [Abstract] [Full Text] [Related]
12. The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. Ratbi I, Lyahyai J, Kabiri M, Banouar M, Zerkaoui M, Barkat A, Sefiania A. Ann Saudi Med; 2015 Aug 02; 35(2):170-2. PubMed ID: 26336027 [Abstract] [Full Text] [Related]
14. Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R. Am J Med Genet A; 2006 Mar 15; 140(6):611-7. PubMed ID: 16470743 [Abstract] [Full Text] [Related]
18. Sanjad Sakati syndrome: a case series from Jordan. Albaramki J, Akl K, Al-Muhtaseb A, Al-Shboul M, Mahmoud T, El-Khateeb M, Hamamy H. East Mediterr Health J; 2012 May 15; 18(5):527-31. PubMed ID: 22764442 [Abstract] [Full Text] [Related]
20. Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature. Cheng SSW, Chan PKJ, Luk HM, Mok MT, Lo IFM. Am J Med Genet A; 2021 Feb 15; 185(2):636-646. PubMed ID: 33263187 [Abstract] [Full Text] [Related] Page: [Next] [New Search]