Ectodermal dysplasias (EDs) as defined by Freire‐Maia [Freire‐Maia (1971); Hum Hered 21:
309–312; Freire‐Maia (1977); Acta Genet Med Gemellol 26: 121–131] are congenital …

The causes of bilateral absence of the nipple-areola complex in men are seldom congenital,
but attributable rather to destruction as a result of trauma, or after mastectomy in female-to …

Progress in the field of genetics in medicine continues at an astonishing rate. Most of the
known single-gene disorders (eg genodermatoses) have at least been mapped to a …

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 …

Aplasia cutis congenita (ACC) manifests at birth as a defect of the scalp skin. New findings
answer 2 longstanding questions: why ACC forms and why it affects mainly the midline scalp …

KCTD1 plays crucial roles in regulating both the SHH and WNT/β-catenin signaling
pathways, which are essential for tooth development. The objective of this study was to …

Lexikon der Syndrome und Fehlbildungen | SpringerLink We’re sorry, something doesn't seem
to be working properly. Please try refreshing the page. If that doesn't work, please contact …

Periodontitis is a prevalent and chronic inflammatory disease that is interrelated with
systemic health. Periodontitis can be promoted by tumor necrosis factor α (TNF-α) …

ABSTRACT Introduction Scalp-Ear-Nipple syndrome is caused by pathogenic KCTD1
variants and characterised by a scalp defect, prominent ears, and rudimentary breasts. We …

The ulnar‐mammary syndrome (UMS) is an autosomal dominant disorder characterized by
posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or …