Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1994 1
1997 1
1999 2
2004 1
2005 1
2006 1
2007 1
2010 1
2012 1
2013 1
2014 1
2019 1
2020 2
2021 2
2022 1
2023 1
2024 4
2025 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

23 results

Results by year

Filters applied: . Clear all
Page 1
Finlay-Marks syndrome: report of two siblings and review of literature.
Naik P, Kini P, Chopra D, Gupta Y. Naik P, et al. Am J Med Genet A. 2012 Jul;158A(7):1696-701. doi: 10.1002/ajmg.a.35389. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639454 Review.
Finlay-Marks syndrome (scalp-ear-nipple syndrome), is the infrequently reported association of scalp aplasia, malformed ears, and breast abnormalities varying from small nipples to complete absence of breasts. ...
Finlay-Marks syndrome (scalp-ear-nipple syndrome), is the infrequently reported association of scalp …
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 alpha3 and alpha4 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 defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome.
Plessis G, Le Treust M, Le Merrer M. Plessis G, et al. Clin Genet. 1997 Oct;52(4):231-4. doi: 10.1111/j.1399-0004.1997.tb02553.x. Clin Genet. 1997. PMID: 9383029 Review.
The association of scalp defect, unusual ears and absence of nipples was described by Finlay & Marks as an autosomal dominant trait. ...
The association of scalp defect, unusual ears and absence of nipples was described by Finlay & Marks as an a …
Scalp-ear-nipple syndrome: additional manifestations.
Edwards MJ, McDonald D, Moore P, Rae J. Edwards MJ, et al. Am J Med Genet. 1994 Apr 15;50(3):247-50. doi: 10.1002/ajmg.1320500307. Am J Med Genet. 1994. PMID: 8042668
Scalp-ear-nipple (SEN) syndrome is a rare, autosomal dominant condition that causes aplasia cutis congenita of the scalp, alteration of the shape of the external ear, and hypoplasia of the nipple. ...Dental changes included widely spaced or miss …
Scalp-ear-nipple (SEN) syndrome is a rare, autosomal dominant condition that causes aplasia cutis congenita of the s …
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.
Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. ...
Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp …
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 congenita …
OBJECTIVES: Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autos …
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.
Smaldone G, Balasco N, Pirone L, Caruso D, Di Gaetano S, Pedone EM, Vitagliano L. Smaldone G, et al. Sci Rep. 2019 Jul 19;9(1):10519. doi: 10.1038/s41598-019-46911-4. Sci Rep. 2019. PMID: 31324836 Free PMC article.
The scalp-ear-nipple (SEN) syndrome is an autosomal-dominant disorder characterized by cutis aplasia of the scalp and malformations of breast, external ears, digits, and nails. ...
The scalp-ear-nipple (SEN) syndrome is an autosomal-dominant disorder characterized by cutis aplasia of the scalp …
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 transcripti …
Potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations are reported to result in scalp-ear-nipple synd …
23 results