Results 61 to 70 of about 3,476 (222)

Categories of Cutaneous Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.
ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley   +1 more source

Ectodermal dysplasia: Report of two cases in a family and literature review

Journal of Family Medicine and Primary Care, 2019
Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi, Dheeraj Voulligonda, Bharadwaj Bhogavaram, P Krishnanjaneya Reddy   +3 more
doaj   +1 more source

Non-functional immunoglobulin G transcripts in a case of hyper-immunoglobulin M syndrome similar to type 4 [PDF]

, 2004
86% of immunoglobulin G (IgG) heavy-chain gene transcripts were found to be non-functional in the peripheral blood B cells of a patient initially diagnosed with common variable immunodeficiency, who later developed raised IgM, whereas no non-functionally
Allen RC, Aruffo A, Bonhomme D, Fuleihan R, Lin Q, Mayer L, Ramesh N, Seyama K, Webster ADB, WHO Scientific Group.   +9 more
core   +3 more sources

Clinical Classification of Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.
Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
wiley   +1 more source

Ectodysplasin target gene Fgf20 regulates mammary bud growth and ductal invasion and branching during puberty [PDF]

, 2017
Mammary gland development begins with the appearance of epithelial placodes that invaginate, sprout, and branch to form small arborized trees by birth.
Elo, Teresa, Howard, Beatrice A., Huh, Sung-Ho, Lan, Qiang, Lindfors, Paivi H., Mikkola, Marja L., Ohlsson, Claes, Ornitz, David M., Poutanen, Matti, Trela, Ewelina, Voutilainen, Maria   +10 more
core   +3 more sources

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis

Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley   +1 more source

Auto-percepção dos portadores de Amelogênese Imperfeita e Displasia [PDF]

, 2012
TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.A Amelogênese Imperfeita é um distúrbio hereditário caracterizado pela formação anormal de esmalte, o que gera dentes com alteração de cor, sensibilidade e
Klita, Ana Paula Haisi
core  

Dental Management of Ectodermal Dysplasia Syndrome at an Early Age: A Case Report [PDF]

, 2019
Objectives: Ectodermal dysplasia (ED) is a relatively common sex-linked dermatitis characterized by congenital dysplasia of one or more ectodermal structures and their accessory appendages.
Ansari, Ghasem, Fayaz, Amir, Nazemi, Bahareh   +2 more
core   +2 more sources

Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases

Pediatric Pulmonology, Volume 60, Issue 4, April 2025.
ABSTRACT Introduction Childhood interstitial and diffuse lung diseases (chILD) comprise a diverse group of rare disorders. Identifying the underlying cause is crucial for treatment, prognosis, and estimating recurrence risk. The objective of this study was to assess the utilization of genetic testing for subjects enrolled in the United States National ...
Laura A. Voss, Rebekah J. Nevel, Jennifer A. Wambach, Lawrence M. Nogee, Robin R. Deterding, Alicia M. Casey, Michael G. O'Connor, Daniel I. Craven, Jane B. Taylor, Gail H. Deutsch, Jade B. Tam‐Williams, Lea C. Steffes, Steven K. Brennan, Maria T. Santiago, Sara C. Sadreameli, Andrea F. Heras, Michael R. Powers, Antonia P. Popova, Manvi Bansal, Aaron Hamvas, William A. Gower, Fernando Urrego, Lisa R. Young, for The ChILD Registry Collaborative   +23 more
wiley   +1 more source

Hereditary Ectodermal Dysplasia in Two Identical Siblings

Acta Medica Bulgarica
Primary defects in two or more ectodermally-derived tissues during embryonic development characterize ectodermal dysplasia, a vast, varied group of inherited illnesses. Skin, hair, nails, eccrine glands, and teeth are the primary tissues affected.
Sarkar A. S., Rao K., Ajila V.
doaj   +1 more source