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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 …
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 aplasia, ma …
Point Shear Wave Elastography by ElastPQ for Fibrosis Screening in Patients with NAFLD: A Prospective, Multicenter Comparison to Vibration-Controlled Elastography.
Bauer DJ, Matic V, Mare R, Maiocchi L, Chromy D, Müllner-Bucsics T, Mandorfer M, Mustapic S, Sporea I, Ferraioli G, Grgurevic I, Reiberger T. Bauer DJ, et al. Ultraschall Med. 2023 Apr;44(2):169-178. doi: 10.1055/a-1724-7289. Epub 2022 Feb 28. Ultraschall Med. 2023. PMID: 35226932 Free PMC article.