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EEC syndrome and related syndrome

MedGen UID:
1842337
Concept ID:
C5680323
Disease or Syndrome
Synonyms: Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders; EEC syndrome and related disorders
 
Orphanet: ORPHA98609

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEEC syndrome and related syndrome

Professional guidelines

PubMed

Buss PW, Hughes HE, Clarke A
J Med Genet 1995 Sep;32(9):716-23. doi: 10.1136/jmg.32.9.716. PMID: 8544192Free PMC Article

Recent clinical studies

Etiology

Nanda A, AlLafi A, Wolf S, AlMasry IM, Betz R
Dermatol Online J 2021 Nov 15;27(11) doi: 10.5070/D3271156088. PMID: 35130400
Zheng J, Liu H, Zhan Y, Liu Y, Wong SW, Cai T, Feng H, Han D
Mol Genet Genomic Med 2019 Jun;7(6):e704. Epub 2019 May 2 doi: 10.1002/mgg3.704. PMID: 31050217Free PMC Article
Monti P, Russo D, Bocciardi R, Foggetti G, Menichini P, Divizia MT, Lerone M, Graziano C, Wischmeijer A, Viadiu H, Ravazzolo R, Inga A, Fronza G
Hum Mutat 2013 Jun;34(6):894-904. Epub 2013 Apr 2 doi: 10.1002/humu.22304. PMID: 23463580
Shalom-Feuerstein R, Serror L, Aberdam E, Müller FJ, van Bokhoven H, Wiman KG, Zhou H, Aberdam D, Petit I
Proc Natl Acad Sci U S A 2013 Feb 5;110(6):2152-6. Epub 2013 Jan 25 doi: 10.1073/pnas.1201753109. PMID: 23355677Free PMC Article
Di Iorio E, Kaye SB, Ponzin D, Barbaro V, Ferrari S, Böhm E, Nardiello P, Castaldo G, McGrath JA, Willoughby CE
Ophthalmology 2012 Jan;119(1):74-83. Epub 2011 Sep 28 doi: 10.1016/j.ophtha.2011.06.044. PMID: 21959367

Diagnosis

Barbaro V, Bonelli F, Ferrari S, La Vella G, Di Iorio E
Cells 2023 Feb 2;12(3) doi: 10.3390/cells12030495. PMID: 36766837Free PMC Article
Nanda A, AlLafi A, Wolf S, AlMasry IM, Betz R
Dermatol Online J 2021 Nov 15;27(11) doi: 10.5070/D3271156088. PMID: 35130400
Otsuki Y, Ueda K, Nuri T, Satoh C, Maekawa R, Yoshiura KI
Medicine (Baltimore) 2020 Oct 30;99(44):e22816. doi: 10.1097/MD.0000000000022816. PMID: 33126320Free PMC Article
Tadini G, Santagada F, Brena M, Pezzani L, Nannini P
G Ital Dermatol Venereol 2013 Feb;148(1):53-8. PMID: 23407076
Brunner HG, Hamel BC, Van Bokhoven H
J Med Genet 2002 Jun;39(6):377-81. doi: 10.1136/jmg.39.6.377. PMID: 12070241Free PMC Article

Therapy

Maas SM, de Jong TP, Buss P, Hennekam RC
Am J Med Genet 1996 Jun 14;63(3):472-8. doi: 10.1002/(SICI)1096-8628(19960614)63:3<472::AID-AJMG11>3.0.CO;2-J. PMID: 8737655

Prognosis

Helenius K, Ojala L, Kainulainen L, Peltonen S, Hietala M, Pohjola P, Parikka V
Eur J Med Genet 2023 May;66(5):104735. Epub 2023 Feb 28 doi: 10.1016/j.ejmg.2023.104735. PMID: 36863510
Jin JY, Zeng L, Li K, He JQ, Pang X, Huang H, Xiang R, Tang JY
J Gene Med 2019 Oct;21(10):e3122. Epub 2019 Aug 30 doi: 10.1002/jgm.3122. PMID: 31420900
Rosa RFM, Moraes SAG, Sulczinski LP, Silva FAD, Milner OG, Pires SRS, Artigalas OAP, Rosa RCM, Zen PRG
Rev Paul Pediatr 2017 Apr-Jun;35(2):234-238. Epub 2017 May 15 doi: 10.1590/1984-0462/;2017;35;2;00017. PMID: 28977327Free PMC Article
Paranaíba LM, Martelli-Júnior H, de Miranda RT, Bufalino A, Abdo Filho RC, Coletta RD
Cleft Palate Craniofac J 2010 Sep;47(5):544-7. doi: 10.1597/09-063. PMID: 20180707
McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H
Hum Mol Genet 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221. PMID: 11159940

Clinical prediction guides

Novelli F, Ganini C, Melino G, Nucci C, Han Y, Shi Y, Wang Y, Candi E
Biochem Biophys Res Commun 2022 Jun 25;610:15-22. Epub 2022 Apr 9 doi: 10.1016/j.bbrc.2022.04.022. PMID: 35430447
Otsuki Y, Ueda K, Nuri T, Satoh C, Maekawa R, Yoshiura KI
Medicine (Baltimore) 2020 Oct 30;99(44):e22816. doi: 10.1097/MD.0000000000022816. PMID: 33126320Free PMC Article
Jin JY, Zeng L, Li K, He JQ, Pang X, Huang H, Xiang R, Tang JY
J Gene Med 2019 Oct;21(10):e3122. Epub 2019 Aug 30 doi: 10.1002/jgm.3122. PMID: 31420900
McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H
Hum Mol Genet 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221. PMID: 11159940
Levrero M, De Laurenzi V, Costanzo A, Gong J, Wang JY, Melino G
J Cell Sci 2000 May;113 ( Pt 10):1661-70. doi: 10.1242/jcs.113.10.1661. PMID: 10769197

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