Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT.
Cell. 2004 Oct 1;119(1):19-31. doi: 10.1016/j.cell.2004.09.011.
PMID:15454078
IRF6-Related Disorders.
Schutte BC, Saal HM, Goudy S, Leslie EJ.
2003 Oct 30 [updated 2021 Mar 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Ulcerative lichen planus associated with webbing of the toes.
Sonnex TS, Eady RA, Sparrow GP, Mayou B.
J R Soc Med. 1986 Jun;79(6):363-5. doi: 10.1177/014107688607900615.
PMID:3723538
Symbrachydactyly - Diagnosis, Function, and Treatment.
Woodside JC, Light TR.
J Hand Surg Am. 2016 Jan;41(1):135-43; quiz 143. doi: 10.1016/j.jhsa.2015.06.114. Epub 2015 Aug 6.
PMID:26254946
Symmetric form of Bonnevie-Ullrich syndrome (syndrome of webbing of the neck, lymphangiectatic edema, shortness of stature, cubitus valgus and deformities of the toes).
SILVER HK.
Pediatrics. 1956 May;17(5):725-31.
PMID:13322516
Effects of the speed on the webbed foot kinematics of mallard (Anas platyrhynchos).
Han D, Liu H, Tong Z, Pan J, Wang X.
PeerJ. 2023 May 15;11:e15362. doi: 10.7717/peerj.15362. eCollection 2023.
PMID:37214106
A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly.
Jia W, Zhou X, Guo N, Zhang D, Hou M, Luo Y, Peng X, Yang X, Zhang X.
Am J Med Genet A. 2022 Jan;188(1):31-36. doi: 10.1002/ajmg.a.62480. Epub 2021 Aug 31.
PMID:34467619
A New Surgical Technique for Polysyndactyly of the Toes without Skin Graft.
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK.
Hum Mutat. 2022 Feb;43(2):189-199. doi: 10.1002/humu.24304. Epub 2021 Dec 16.