Results 61 to 70 of about 18,314 (251)
A novel homozygous mutation of the AIRE gene in an APECED patient from Pakistan: case report and review of the literature [PDF]
, 2018 Autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene.
Bellacchio, Emanuele +5 more
core +2 more sources
Kdf1 Regulates Molar Cusp Morphogenesis via the PI3K/AKT/mTOR Signalling Axis
Cell Proliferation, EarlyView.Epithelial Kdf1 knockout disrupts molar cusp morphogenesis by promoting inner enamel epithelium proliferation and invagination via PI3K/AKT/mTOR signalling. ABSTRACT Keratinocyte differentiation factor 1 (Kdf1) reportedly plays a significant role in enamel formation.
Jiayu Wang +9 more
wiley +1 more source
Neurogastroenterology &Motility, EarlyView.The long‐term anorectal outcomes of non‐surgically treated patients diagnosed with minor types of ARM seem optimal. Most of these patients experience no constipation or fecal incontinence; some experience constipation and relatively seldom fecal incontinence. Furthermore, most patients possess all the known fecal continence mechanisms.
Venla E. C. den Hollander +3 more
wiley +1 more source
Case Reports in Dentistry, 2020 Ectrodactyly-ectodermal dysplasia clefting syndrome is a rare genetic disorder characterized by the triad of ectrodactyly-ectodermal dysplasia and facial clefting of lip or palate or both along with some systemic manifestations. Although each defect that
Anamika Bharati +5 more
doaj +1 more source
Unique case of inverted papilloma of septum with nasopharyngeal carcinoma:Is it a metachronous tumour? [PDF]
, 2020 Inverted papilloma is a rare and benign tumour. It affects the nasal cavity and paranasal sinuses, has a high rate of recurrence and is associated with malignant transformation.
Ferguson, Aaron S. J. +4 more
core +3 more sources
Pediatric Dermatology, EarlyView.ABSTRACT Marie Unna hereditary hypotrichosis 1 (MUHH1) is a rare autosomal dominant condition characterized by the absence or scarcity of hair at birth with the growth of coarse, wiry, and unruly hair during childhood and progressive hair loss after puberty.
Sarah Østergaard Holm +5 more
wiley +1 more source
Ectodermal dysplasia: A report of two cases
Journal of Craniomaxillofacial Research, 2017 Introduction: Ectodermal dysplasia (ED) is a group of syndromes and disorders in the human body characterized by structural anomalies in the ectoderm and often associated with hair, teeth and skin abnormalities.
Mozhgan Kazemian +2 more
doaj
Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature
Case Reports in Dentistry, 2012 Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands.
Sepideh Mokhtari +2 more
doaj +1 more source
Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]
, 2008 Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando +4 more
core
Arterial dysgenesis and limb defects : Clinical and experimental examples [PDF]
, 2017 Acknowledgements This article is dedicated to Dr David S. Packard Jr. With thanks to Dr John DeSesso, Dr Lewis B. Holmes, Dr Mark Levinsohn, Dr David S.
Hootnick, David R., Vargesson, Neil
core +1 more source