Results 31 to 40 of about 5,083 (170)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review

Frontiers in Oncology, 2022
BackgroundCongenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by ...
Yufan Chen, Haibo Zhang, Yang Zhao, Jie Ma   +3 more
doaj   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

From the diagnosis of a mandibular cystic lesion to the surgical management of a case of a nevoid basal cell carcinoma syndrome

Journal of Oral Medicine and Oral Surgery
Introduction: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary disease with autosomal dominant transmission. Multiple basal cell carcinomas, keratocysts located in the jaw, and developmental abnormalities are common ...
Khenifi Houcem, Rohart Justine, Moizan Hervé, Benateau Hervé   +3 more
doaj   +1 more source

Rare Secondary Neoplasms Arising in Epidermal Nevus: A Case Series and Literature Review

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Malignant transformation is known to occur with many nevi, such as nevus sebaceus. However, cases of secondary tumors developing in an epidermal nevus (EN) are rare, with only a few case reports documented in the literature. We present three unique cases of syringocystadenoma papilliferum (SCAP), syringofibroadenoma, trichilemmoma, and basal ...
Haya A. Homsi, Melissa Piliang, Jennifer Lucas, Jennifer S. Ko, Steven D. Billings, Shira Ronen   +5 more
wiley   +1 more source

Medulloblastoma with Extensive Nodularity in a Child with Gorlin Syndrome - Case Report from Regional Cancer Centre

Clinical Pediatric Hematology-Oncology
Gorlin syndrome, also known as Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome (NBCCS), or basal cell nevus syndrome, is a rare autosomal dominant cancer predisposition disorder characterized by high penetrance and variable expressivity.
M. Vijay Krishnan, Appaji Lingegowda, Arun Kumar, Prakruthi S. Kaushik, Meena Haldorai, R. Nikila, Avinash Thummalapalli, T. M. Surekha   +7 more
doaj   +1 more source

Depicting the Immunological Landscape of Basal Cell Carcinoma Subtypes

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Background Anti‐PD‐1 response has been associated with higher PD‐1 ligand (PD‐L1) expression levels in different cancer types. Cemiplimab, an anti‐PD‐1 antibody, has been shown to induce a response rate of 31% and 22% in patients with locally advanced basal cell carcinoma (BCC) and metastatic BCC respectively, who have progressed or are ...
Isabella Dommann, Gaetana Restivo, Isabel Kolm, Federica Sella, Patrick Turko, Phil F. Cheng, Mitchell Levesque, Corina Dommann‐Scherrer, Reinhard Dummer, Egle Ramelyte   +9 more
wiley   +1 more source

Dentofacial characteristics in a child with Meier–Gorlin syndrome: A rare case report

Saudi Dental Journal, 2018
Meier–Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of microtia, absent or small patellae and short stature. The other associated clinical features may include developmental delay, congenital pulmonary emphysema,
Rahul G. Morankar, Ashima Goyal, Krishan Gauba, Aditi Kapur   +3 more
doaj   +1 more source