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Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.
Butler KM, Bahrambeigi V, Merrihew A, Friez MJ, Cathey SS. Butler KM, et al. Clin Dysmorphol. 2021 Oct 1;30(4):167-172. doi: 10.1097/MCD.0000000000000387. Clin Dysmorphol. 2021. PMID: 34456244 Review.
OBJECTIVES: Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autosomal dominant Scalp-Ear-Nipple syndrome (SENS), a type of ectodermal dysplasia characterized by aplasia cutis co …
OBJECTIVES: Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autos …
Scalp-ear-nipple syndrome: a case report.
Morales-Peralta E, Andrés V, Campillo Betancourt D. Morales-Peralta E, et al. Case Rep Med. 2014;2014:785916. doi: 10.1155/2014/785916. Epub 2014 Feb 9. Case Rep Med. 2014. PMID: 24660003 Free PMC article.
KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains.
Wang D, Trevillian P, May S, Diakumis P, Wang Y, Colville D, Bahlo M, Greferath U, Fletcher E, Young B, Mack HG, Savige J. Wang D, et al. Ophthalmic Genet. 2023 Feb;44(1):19-27. doi: 10.1080/13816810.2022.2144900. Epub 2022 Dec 29. Ophthalmic Genet. 2023. PMID: 36579937
INTRODUCTION: Scalp-Ear-Nipple syndrome is caused by pathogenic KCTD1 variants and characterised by a scalp defect, prominent ears, and rudimentary breasts. ...
INTRODUCTION: Scalp-Ear-Nipple syndrome is caused by pathogenic KCTD1 variants and characterised by a scalp defe …
[Scalp-ear-nipple syndrome].
Sonoda T. Sonoda T. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):606-7. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528920 Review. Japanese. No abstract available.
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. Marneros AG, et al. Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541344 Free PMC article.
Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.
Baris H, Tan WH, Kimonis VE. Baris H, et al. Am J Med Genet A. 2005 Apr 15;134A(2):220-2. doi: 10.1002/ajmg.a.30612. Am J Med Genet A. 2005. PMID: 15712197 Free article. Review.
The scalp-ear-nipple syndrome is a rare autosomal dominant condition that involves lesions of the scalp, malformed external ears, and absence of rudimentary nipples and breasts. ...This case may represent a mild phenotype of the scalp-ear …
The scalp-ear-nipple syndrome is a rare autosomal dominant condition that involves lesions of the scalp, malform …
KCTD1 mutants in scalp-ear-nipple syndrome and AP-2alpha P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/beta-catenin signaling.
Hu L, Chen L, Yang L, Ye Z, Huang W, Li X, Liu Q, Qiu J, Ding X. Hu L, et al. Mol Med Rep. 2020 Nov;22(5):3895-3903. doi: 10.3892/mmr.2020.11457. Epub 2020 Aug 24. Mol Med Rep. 2020. PMID: 33000225 Free PMC article.
Potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations are reported to result in scalp-ear-nipple syndrome. These mutations occur in the conserved broad-complex, tramtrack and bric a brac domain, which is associated with inhibited tran …
Potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations are reported to result in scalp-ear-nipple s …
Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family.
Al-Gazali L, Nath R, Iram D, Al Malik H. Al-Gazali L, et al. Clin Dysmorphol. 2007 Apr;16(2):105-107. doi: 10.1097/MCD.0b013e3280147217. Clin Dysmorphol. 2007. PMID: 17351354
We report two children from an inbred Arab family with features suggestive of scalp-ear-nipple syndrome who in addition had severe hypotonia and developmental delay. Also addition, other features seen in scalp-ear-nipple syndrom …
We report two children from an inbred Arab family with features suggestive of scalp-ear-nipple syndrome who in a …
23 results