Results 31 to 40 of about 3,858 (212)

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source

Incontinencia Pigmenti: rara genodermatosis ligada con el cromosoma X. Reporte de un caso clínico

Medicina U.P.B., 2016
La incontinencia pigmenti (síndrome de Bloch-Sulzberger) es una genodermatosis rara causada por una mutación en el gen NEMO localizado en el cromosoma X. Las manifestaciones cutáneas son marcadoras de esta entidad y se dan de forma temprana y cronológica.
Luisa Fernanda Ríos Barco
doaj   +1 more source

An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report

Clinical Case Reports, 2021
Pneumocystis jirovecii pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms.
Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka   +12 more
doaj   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 904-913, May 2026.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

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

Incontinentia pigmenti: case report and 5-year follow-up

Acta Odontologica Turcica, 2017
Introduction: Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) is a disease of organ involvement with ectodermic and mesodermic origin, showing dominant transition based on the X-chromosome. It affects the skin, eyes, teeth, and central nervous system.
Ayşegül Sarı, Salih Çelik
doaj   +1 more source

WHO classification of skin tumours: key updates in the fifth edition

Histopathology, Volume 88, Issue 3, Page 555-568, February 2026.
This review article summarizes the key updates in the 5th edition of the WHO Classification of Skin Tumours. It provides an overview of the major changes and new entities specific to the skin section, covering areas such as epidermal, melanocytic, mesenchymal and other tumours. The 5th edition of the World Health Organization Classification of Tumours (
Gabrielle Goldman‐Lévy, Raymond Barnhill, Boris C. Bastian, Werner Kempf, David Elder, Pedram Gerami, Wayne Grayson, Dmitry Kazakov, Daniela Massi, Jane Messina, Arnaud de la Fouchardière, Alexander J. Lazar, Thomas Brenn, Brian Rous, Andrew Field, Anthony Gill, Jennelle C. Hodge, Joseph D Khoury, Katia Leite, Shahin Sayed, Puay Hoon Tan, Rosalie Elenitsas, Eduardo Calonje, Lyn M. Duncan, Liang Zhiyong, Holger Moch, Rajendra Singh, Harshima Wijesinghe, Ian Cree, Dilani Lokuhetty   +29 more
wiley   +1 more source

Incontinencia pigmenti con defecto en la inmunidad celular

Boletín Médico del Hospital Infantil de México, 2015
Introducción: La incontinencia pigmenti es una enfermedad genética rara ligada al cromosoma X, letal en el varón, que afecta a todos los tejidos derivados del ectodermo, como piel, faneras, ojos, dientes y sistema nervioso central, y presenta ...
Antonio Zamora-Chávez, Argelia Escobar-Sánchez, Stanislaw Sadowinski-Pine, Omar Josué Saucedo-Ramírez, Palmira Delgado-Barrera, Claudia G. Enríquez-Quiñones   +5 more
doaj   +1 more source

Scientific opinion on the exposure of children and adolescents in the Republic of Croatia to acrylamide from food

Food Risk Assess Europe, Volume 4, Issue 1, January 2026.
Summary Acrylamide is a natural by‐product of the reaction that occurs during the baking or frying food at temperatures above 120°C in industry and in households. The main mechanism of acrylamide formation in food is the Maillard reaction, in which the free amino acid asparagine, which is found in many types of cereals and potatoes, reacts with ...
Danijela Stražanac, Sanja Miloš, Martina Pavlić, Nikolina Čukelj Mustač, Tanja Bogdanović, Antun Jozinović, Dražen Knežević   +6 more
wiley   +1 more source

Incontinentia pigmenti with neurologic and oculodental disorders

Indian Journal of Paediatric Dermatology, 2016
Incontinentia pigmenti is a genodermatosis with X-linked dominant inheritance, characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities with a pattern suggestive of somatic mosaicism.
Jorge Arturo Avina Fierro, Daniel A Hernandez Avina   +1 more
doaj   +1 more source