Results 221 to 230 of about 97,105 (315)

Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review. [PDF]

Mol Genet Genomic Med
Lecca M, Bosetti C, Ruoli F, Fontanel L, Mazza M, Valente EM, Battini R, Errichiello E.   +7 more
europepmc   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Atherosclerotic changes in an intrasellar persistent trigeminal artery in a patient presenting with dizziness: a case report from Korea. [PDF]

Ewha Med J
Byun J, Lee B.
europepmc   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

A rare case of Goltz syndrome: Clinical presentation and diagnostic challenges. [PDF]

JAAD Case Rep
Turkistani ON, Abbas RA, Aldraibi SM, Alqahtani RM, Jfri A.   +4 more
europepmc   +1 more source

A Rare Case of Cutaneous Extramedullary Hematopoiesis in Chronic Myeloid Leukemia

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous extramedullary hematopoiesis (CEH) is a rare manifestation of extramedullary hematopoiesis (EMH), a process typically associated with fetal development or myeloproliferative neoplasms. EMH most commonly involves the spleen, liver, and lymph nodes, with CEH being exceedingly rare in chronic myeloid leukemia (CML).
Bennett Christie‐Nguyen, Hanadi El Achi, Levani Iashvili, Amer Wahed, Brenda Mai, Jacob Armstrong   +5 more
wiley   +1 more source

A De Novo Mutation (c.2423A>G) in <i>SAMD9</i> Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family. [PDF]

Hum Mutat
Huang Y, Fu J, Gan Z, Xiong F, Zhu H, Yang F.   +5 more
europepmc   +1 more source

Antimicrobial prescribing guidelines for feedlot cattle

Australian Veterinary Journal, EarlyView.
P Cusack, T Batterham, SW Page, GF Browning, JM Norris   +4 more
wiley   +1 more source

Limbal cystotomy by fine needle aspiration of a translucent iris cyst in a horse

Equine Veterinary Education, EarlyView.
Summary A 4‐year‐old Cremello crossbred mare was referred to the Equine Veterinary Teaching Hospital of Utrecht University for a translucent iris cyst from the dorsal pupillary margin corpora nigra in the right eye. Although noninvasive diode laser treatment is the preferred method of pigmented cyst ablation, two attempts did not result in disruption ...
A. L. Hendrikx, S. Veraa, J. P. A. M. van Loon, H. Hermans, I. J. M. Slenter, E. M. S. Visser   +5 more
wiley   +1 more source

Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report. [PDF]

Int Med Case Rep J
Moraes PC, Montalli VAM, Sperandio M, Dos Santos AM, Rosa ACG.   +4 more
europepmc   +1 more source