Results 91 to 100 of about 4,180 (225)

Hypohidrotic Ectodermal Dysplasia with total anodontia: a case report [PDF]

, 2011
Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack ...
Sathyajith Naik, N., Shashibhushan, K.K., Subba Reddy, V.V., Viswanathan, Revathy   +3 more
core   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Pigmentary Mosaicism: An Overview

JEADV Clinical Practice, Volume 4, Issue 3, Page 681-689, August 2025.
Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal ...
C. Colmant, E. Legius, N. Cattaert, M.‐A. Morren   +3 more
wiley   +1 more source

Embryonic cranial cartilage defects in the Fgfr3Y367C/+ mouse model of achondroplasia

The Anatomical Record, Volume 308, Issue 7, Page 1893-1911, July 2025.
Abstract Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects.
Susan M. Motch Perrine, Nishchal Sapkota, Kazuhiko Kawasaki, Yejia Zhang, Danny Z. Chen, Mizuho Kawasaki, Emily L. Durham, Yann Heuzé, Laurence Legeai‐Mallet, Joan T. Richtsmeier   +9 more
wiley   +1 more source

Agenesias dentarias: en busca de las alteraciones genéticas responsables de la falta de desarrollo [PDF]

, 2004
En conjunto, las agenesias dentarias son la malformación cráneofacial más frecuente. Su prevalencia alcanza el 20% en la dentición permanente, y su expresión puede variar desde la ausencia de una sola pieza, generalmente un tercer molar, hasta la de toda
Kolenc Fusé, Francisco Javier
core  

Reimplantation: clinical Implications and outcome of dry storage of avulsed teeth [PDF]

, 2010
Reimplantation refers to the insertion and temporary fixation of completely or partially avulsed teeth that have resulted from traumatic injury. Reimplantation of an avulsed tooth depends on certain clinical conditions like phy- siological status of ...
Dhindsa, Abhishek, Garg, Shalini, Jindal, Sanjeev Kumar, Singla, Anshu   +3 more
core   +1 more source

A Japanese Case of Lenz‐Majewski Syndrome With a Novel PTDSS1 Variant

Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
A Japanese girl with a de novo PTDSS1 R95Q variant showed mild sclerosing bone dysplasia. Functional and structural analyses revealed intermediate PS synthesis activity compared to previously reported variants, suggesting a broader phenotypic spectrum of LMS.
Yasuko Kobari, Non Miyata, Jun Takayama, Naoya Saijo, Tomohisa Suzuki, Shigeo Kure, Atsuo Kikuchi, Gen Tamiya, Takumi Takizawa   +8 more
wiley   +1 more source

Axenfeld–Rieger Syndrome: A Case Report and Brief Review [PDF]

Journal of South Asian Association of Pediatric Dentistry
Axenfeld–Rieger Syndrome (ARS) is a rare autosomal dominant genetic disorder with an overall incidence of 1:200,000 that has mainly ocular, periumbilical, and dental abnormalities like oligodontia/hypodontia, microdontia, and delayed eruption of ...
Amina Sultan, Simran Uppal, Akanksha Juneja   +2 more
doaj   +1 more source

An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases [PDF]

, 2015
Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically
Akkus, Zeki, Aksoy, Orhan, Callea, Michele, Clarich, Gabriella, Doğan, Mehmet Sinan, Günay, Ahmet, Günay, Ayşe, Güven, Sedat, Maglione, Michele, Yavuz, İzzet   +9 more
core   +2 more sources

Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination [PDF]

, 2015
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births.
Aakash Pandita, Chetan Kumar, Deepak Sharma, Pradeep Sharma, Sanjay Bhalerao, Sweta Shastri   +5 more
core   +2 more sources