Results 161 to 170 of about 5,870 (232)

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Barriers to Ophthalmologic Care Reported by Family Caregivers of Users and Non‐Users With Intellectual Disabilities

Journal of Intellectual Disability Research, Volume 70, Issue 8, Page 845-857, August 2026.
ABSTRACT Background People with intellectual disabilities (IDs) are more likely to experience vision‐related impairments, yet they face many barriers to accessing eye care. Although previous studies have described these barriers, few have compared barriers reported by families who have and have not accessed ophthalmologic care, which may provide ...
Chiun‐Ho Hou, Yueh‐Ching Chou, Shu‐Fang Shih, Christy Pu   +3 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Circulating Autoantibody Profiling Identifies LIMS1 as a Potential Target for Pathogenic Autoimmunity in pathologic Myopia. [PDF]

Mol Cell Proteomics
Qi J, Li H, Du Y, Liu Y, He W, Meng J, Wei L, Zhang K, Lu Y, Zhu X.   +9 more
europepmc   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1716-1718, July 2026.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith–Magenis Syndrome and the Importance of the Diagnostic Pathway

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Smith–Magenis syndrome (SMS) is a rare multisystem genetic disorder caused by a 17p11.2 microdeletion or pathogenic variants in the retinoic acid‐induced 1 (RAI1) gene. It is characterized by developmental delay, distinctive craniofacial features, behavioral dysregulation, and inverted sleep–wake rhythm.
Fethiye Kılıçaslan, Ayşe Rümeysa Olgar Çetin, Özlem Öz, Mert Coşkun, Mehmet Burak Mutlu, Berna Polat Tüysüz   +5 more
wiley   +1 more source

Correction: Performances of artificial intelligence in detecting pathologic myopia: a systematic review and meta-analysis. [PDF]

Eye (Lond)
Zhang Y, Li Y, Liu J, Wang J, Li H, Zhang J, Yu X.   +6 more
europepmc   +1 more source

Profuse nocturnal eyelid haemorrhage from a spider angioma

Acta Ophthalmologica, Volume 104, Issue 5, Page 586-587, August 2026.
Ype P. de Jong, Paulus T. V. M. de Jong
wiley   +1 more source

Understanding Barriers to Human‐Wildlife Coexistence: Evidence From Southern Sri Lanka

Ecology and Evolution, Volume 16, Issue 7, July 2026.
We investigated the barriers to coexistence with wild elephants (Elephas maximus maximus) as experienced by farmer communities in Southern Sri Lanka. Through an ethnographic study, we identified socio‐political drivers, institutional and structural challenges, and power and corruption as the main themes of barriers to coexistence.
Anuradhi Dulangi Jayasinghe, Georgette Leah Burns, Duan Biggs   +2 more
wiley   +1 more source

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem, Laraib Ghanghro, Ayesha Khan, Maryam Khalid, Salwa Bashir, Dania Iqbal, Adan Ali, Hussain Haider Shah, Sameer Abdul Rauf, Humaira Kalam   +9 more
wiley   +1 more source