These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
27. Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2). Kondo I; Matsuura S; Kuwajima K; Tokashiki M; Izumikawa Y; Naritomi K; Niikawa N; Kajii T Am J Med Genet; 1991 Nov; 41(2):225-9. PubMed ID: 1785639 [TBL] [Abstract][Full Text] [Related]
28. Aarskog syndrome. A case report. Dayal PK; Chaudhary AR; Desai KI; Joshi HN Oral Surg Oral Med Oral Pathol; 1990 Mar; 69(3):403-5. PubMed ID: 2314870 [TBL] [Abstract][Full Text] [Related]
32. A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. Hamzeh AR; Saif F; Nair P; Binjab AJ; Mohamed M; Al-Ali MT; Bastaki F BMC Pediatr; 2017 Jan; 17(1):31. PubMed ID: 28103835 [TBL] [Abstract][Full Text] [Related]
33. Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review. Wang T; Yang Y; Dong Q; Zhu H; Liu Y Mol Genet Genomic Med; 2020 Jul; 8(7):e1282. PubMed ID: 32406602 [TBL] [Abstract][Full Text] [Related]
34. A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly. Kessel I; German A; Peleg A; ; Gonzaga-Jauregui C; Paperna T; Ekhilevitch N; Kurolap A; Baris Feldman H; Sagi-Dain L Am J Med Genet A; 2021 Oct; 185(10):3161-3166. PubMed ID: 34145742 [TBL] [Abstract][Full Text] [Related]
35. X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype. Verhoeven WM; Egger JI; Hoogeboom AJ Genet Couns; 2012; 23(2):157-67. PubMed ID: 22876573 [TBL] [Abstract][Full Text] [Related]
36. [The Robinow syndrome: a report of a family with autosomal dominant transmission]. Díaz López MT; Lorenzo Sanz G; Quintana Castilla A; Esteve de Pablo C; Aparicio Meix JM An Esp Pediatr; 1996 May; 44(5):520-3. PubMed ID: 8928981 [No Abstract] [Full Text] [Related]