Results 41 to 50 of about 4,625 (171)

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 more
wiley   +1 more source

Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia

Clinical Genetics, Volume 110, Issue 1, Page 3-14, July 2026.
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise, Benkirane‐Jessel Nadia, Anton Nicolas, Vandamme Thierry, Clauss François, Conzatti Guillaume   +5 more
wiley   +1 more source

S3 guideline diagnostics and therapy of alopecia areata – Part 1: Diagnostics and epidemiology

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 7, Page e1000-e1015, July 2026.
Summary In the project funded by the Innovation Committee at the G‐BA, the S3 guideline for the diagnosis and treatment of AA was developed between 2023 and 2025. The interdisciplinary expert panel consisted of representatives from the German Dermatological Society, in particular from the Pediatric Dermatology Working Group, the Professional ...
Ulrike Blume‐Peytavi, Andria Constantinou, Tsenka Tomova‐Simitchieva, Adrian Tanew, Michael Sticherling, Hermann Girschick, Annika Vogt, Uwe Schwichtenberg, Uwe Gieler, André Märtens, Kerstin Zienert, Claudia Stenders, Ricardo Niklas Werner, Doris Wilborn   +13 more
wiley   +1 more source

Despite the hair failing, nails thrive…

Indian Journal of Paediatric Dermatology, 2017
Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth.
Samipa Samir Mukherjee, B S Chandrashekar   +1 more
doaj   +1 more source

Evaluation of safety and efficacy of an ophytrium and seboliance‐containing mousse with or without shampoo in cats with keratinisation disorders

Journal of Small Animal Practice, Volume 67, Issue 7, Page 619-626, July 2026.
Objectives This study aimed to assess the effectiveness of a protocol involving the application of topical products (DOUXO® S3 SEB Shampoo and Mousse; Ceva Santé Animale) containing ophytrium for managing feline keratinisation disorders. Materials and Methods Nineteen client‐owned cats with a history of keratinisation disorders exhibited greasy or dry ...
C. Noli, H. Dropsy, A. Cozar, X. De Jaeger, R. Kesteman, A. Beck, R. Cristante, M. Debraine, F. Leymarios, A. Puozzo‐Barichard, M. Gatellet   +10 more
wiley   +1 more source

Hypohidrotic Ectodermal Dysplasia [PDF]

Journal of Clinical and Diagnostic Research, 2021
Chiranjit Ghosh, Shabnam Zahir, Shyamal Bar   +2 more
doaj   +1 more source

Marie-Unna Hereditary Hypotrichosis

International Journal of Trichology, 2014
Marie-Unna type of hereditary hypotrichosis is a rare autosomal dominant disorder that has a distinctive type of hair loss pattern that varies with child's age. It is characterized by sparse or absent hair at birth with regrowth of coarse, wiry twisted hair from childhood, followed by progressive loss on approaching puberty.
Srinivas, Sahana M, Hiremagalore, Ravi
openaire   +3 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Focal naevoid hypotrichosis

Acta Dermato-Venereologica, 1987
A case of naevoid hypotrichosis affecting two symmetrical areas in the parietal regions is described.
JH Barth, null Dawber RP.
openaire   +3 more sources

Early Oral Rehabilitation of a Pediatric Patient With Hypohidrotic Ectodermal Dysplasia: A Case Report from Afghanistan

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands. Dental manifestations such as anodontia or hypodontia can significantly impair mastication, speech development, facial esthetics, and psychosocial well‐being ...
Nazera Ahmadzai, Hedayatullah Ehsan, Fatima Sapai, Mohammad Bashir Nejabi, Ahmad Anas Khairzad, Nematullah Sharifi   +5 more
wiley   +1 more source