Results 271 to 280 of about 87,727 (384)

Syngnathia and associated congenital anomalies in an infant: A case report. [PDF]

Int J Surg Case Rep
Mohammadi F, Modarresi ZS, Mehraban SH, Mousavi R.   +3 more
europepmc   +1 more source

Primary Microcephaly [PDF]

, 2014
openaire   +1 more source

No microcephaly for Hobbit [PDF]

Genome Biology, 2005
openaire   +2 more sources

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation. [PDF]

J Clin Med
Kong MD, Sylla MM, Oh JK, Dedania VS, Soucy M, Demirkol A, Brodie SE, Maumenee IH, Tsang SH.   +8 more
europepmc   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

QARS1 associated developmental epileptic encephalopathy: first report of a rare homozygous missense variant from Pakistan causing nonepileptic phenotype in a family of seven patients and a comprehensive review of the literature. [PDF]

Mol Biol Rep
Ahmad R, Naeem M, Houlden H.
europepmc   +1 more source

25‐Hydroxycholesterol Protects Host against Zika Virus Infection and Its Associated Microcephaly in a Mouse Model

Immunity, 2017
Chunfeng Li, Yongqiang Deng, Shuo Wang, Feng Ma, R. Aliyari, Xingyao Huang, Na-Na Zhang, Momoko Watanabe, Hao-Long Dong, Ping Liu, Xiao-Feng Li, Qing Ye, Min Tian, Shuai Hong, Jun-Wan Fan, Hui Zhao, Lili Li, N. Vishlaghi, J. Buth, Connie Au, Y. Liu, Ning Lu, Peishuang Du, F. X. Qin, Bo Zhang, D. Gong, X. Dai, R. Sun, B. Novitch, Zhiheng Xu, C. Qin, G. Cheng   +31 more
semanticscholar   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome. [PDF]

Cell Commun Signal
Huang L, Wang Y, Zhang Y, Fu H, Mao J.
europepmc   +1 more source