Results 311 to 320 of about 87,727 (384)

FITM2‐Related Siddiqi Syndrome in Two Iranian Siblings

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early‐onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare ...
Raha Ahmadi, Mohammad Javad Bavarsad, Meysam Feizollah Jani, Reza Azizimalamiri   +3 more
wiley   +1 more source

Novel <i>KIF11</i> Mutation Associated with Microcephaly, Chorioretinopathy and Impaired Intellectual Development: 20 Years of Follow-Up. [PDF]

Children (Basel)
Yaskanich AH, Patel A, Leys M.
europepmc   +1 more source

A Case of Cerebral Folate Deficiency due to FOLR1 Mutation in a 10‐Year‐Old Girl: Clinical Presentation and Treatment Outcomes

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Cerebral folate deficiency (CFD) is characterized by reduced levels of folate, particularly 5‐methyltetrahydrofolate (5‐MTHF), in the cerebrospinal fluid (CSF). This case report describes a 10‐year‐old girl diagnosed with CFD due to a pathogenic mutation in the FOLR1 gene, which impairs folate transport across the blood–brain barrier.
Farzad Ahmadabadi, Mahsa Heidari‐Foroozan, Seyed Amin Jazayeri, Parvane Karimzadeh, Elham Hatami   +4 more
wiley   +1 more source

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia. [PDF]

Orphanet J Rare Dis
Tejero E, de Haro MJR, Pujol R, Bogliolo M, Rodríguez-Santiago B, Surrallés J.   +5 more
europepmc   +1 more source

Advances in epilepsy associated with 16p11.2 microdeletion syndrome

Clinical and Translational Discovery, Volume 5, Issue 5, October 2025.
This comprehensive review explores the evolving understanding of epilepsy related to 16p11.2 microdeletion syndrome, highlighting both clinical manifestations and cutting‐edge mechanistic research. We focus in particular on five key genes—PRRT2, KCTD13, TAOK2, QPRT and SEZ6L2.
Qikai Zhao, Shuqi Liang, Xiao Wu, Xiaohui Min, Nooraynee Bibi Needah Ginowree, Gang Zhang   +5 more
wiley   +1 more source

A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome. [PDF]

BMC Pediatr
Chenzhuo S, Lingling F, Ang W, Hui C, Ruixin W, Bixi Y, Hongmin L, Jie M, Tianyou W.   +8 more
europepmc   +1 more source

Environmental causes of human congenital malformations: The physician\u27s role in dealing with these complex clinical problems caused by environmental and genetic factors. [PDF]

, 2008
Brent, Robert L
core   +1 more source

A head start: The relationship of placental factors to craniofacial and brain development

Developmental Dynamics, Volume 254, Issue 10, Page 1096-1114, October 2025.
Abstract In recent years, the importance of placental function for fetal neurodevelopment has become increasingly studied. This field, known as neuroplacentology, has greatly expanded possible etiologies of neurodevelopmental disorders by exploring the influence of placental function on brain development.
Annemarie Jenna Carver, Martine Dunnwald, Hanna Elizabeth Stevens   +2 more
wiley   +1 more source

Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts. [PDF]

Eur J Hum Genet
Arkush L, van Woerden GM, Ziv L, Marek-Yagel D, Fonseca R, Brevé E, Barel O, Shalva N, Veber A, Anikster Y, Ben-Ami Raichman D, Musallam B, Marcu S, Nissenkorn A, Mandel H, Kushner SA, Ben Zeev B, Heimer G.   +17 more
europepmc   +1 more source

Is Genetic Differentiation Involved in the Morphological Adaptation of Adenophora triphylla var. japonica (Camanulaceae) to Water Flow Stress Along Rivers?

Ecology and Evolution, Volume 15, Issue 10, October 2025.
This study found that riverside populations of Adenophora triphylla have genetically fixed morphological traits—such as narrower leaves and thicker, shorter petioles and stems—that help resist water flow stress. These traits were maintained even under cultivation, suggesting adaptive evolution rather than mere plasticity.
Iori Yajima, Masayuki Shiba, Kyohei Ohga, Yoshimasa Kumekawa, Tatsuya Fukuda   +4 more
wiley   +1 more source