Results 41 to 50 of about 436,684 (219)

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

American Journal of Human Genetics, 2018
Neurodevelopment is a transcriptionally orchestrated process. Cyclin K, a regulator of transcription encoded by CCNK, is thought to play a critical role in the RNA polymerase II-mediated activities.
Yanjie Fan, Wu Yin, Bing Hu, A. Kline, V. Zhang, D. Liang, Yu Sun, Lili Wang, Sha Tang, Z. Powis, Lei Li, Huifang Yan, Zhen Shi, Xiaoping Yang, Yinyin Chen, Jingmin Wang, Yuwu Jiang, H. Tan, Xuefan Gu, Lingqian Wu, Yongguo Yu   +20 more
semanticscholar   +1 more source

Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1–34 deletion: case report and literature review

BMC Pediatrics, 2020
Background 13q33–q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs.
Xue He, Huijun Shen, Haidong Fu, Chunyue Feng, Zhixia Liu, Yanyan Jin, Jianhua Mao   +6 more
doaj   +1 more source

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

American Journal of Human Genetics, 2016
From a GeneMatcher-enabled international collaboration, we identified ten individuals affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 variant detected by whole-exome sequencing.
F. Harms, K. Girisha, A. Hardigan, F. Kortüm, A. Shukla, M. Alawi, A. Dalal, L. Brady, M. Tarnopolsky, L. Bird, S. Ceulemans, M. Bebin, K. Bowling, S. Hiatt, E. Lose, Michelle Primiano, W. Chung, J. Juusola, Z. Akdemir, M. Bainbridge, W. Charng, M. Drummond-Borg, M. Eldomery, Ayman W El-Hattab, M. Saleh, S. Bézieau, B. Cogné, B. Isidor, S. Küry, J. Lupski, R. Myers, G. Cooper, K. Kutsche   +32 more
semanticscholar   +1 more source

Oral manifestations of Nance–Horan syndrome: A report of a rare case

Contemporary Clinical Dentistry, 2019
Nance–Horan syndrome (NHS) or X-linked cataract dental syndrome is an extremely rare condition affecting multiple systems. It is characterized by ophthalmological, dental, and facial anomalies.
Neil De Souza, Paul Chalakkal, Sergio Martires, Renita Soares   +3 more
doaj   +1 more source

Aftermath in Traboulsi syndrome: A case report

Indian Journal of Ophthalmology. Case Reports, 2022
To report a long-term (15 years) follow-up of a patient with a rare congenital ophthalmological disorder known as Traboulsi syndrome. It is characterized by ectopia lentis, congenital blebs, and facial dysmorphism.
Venugopal Anitha, Ramakrishnan Rangappa, Meenakshi Ravindran, Mohideen A Kader   +3 more
doaj   +1 more source

Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

Egyptian Journal of Medical Human Genetics, 2016
We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular
J.A. Avina Fierro, D.A. Hernandez Avina
doaj   +1 more source

Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

, 2005
Contains fulltext : 49059.pdf (Publisher’s version ) (Open Access)Congenital cataracts facial dysmorphism neuropathy syndrome is a recently delineated autosomal recessive condition exclusively found in the Gypsy population.
Pasman, J.W., Willemsen, M.A.A.P., Scheffer, H., Spruit, M., Shabo, G., Cruysberg, J.R.M., Lammens, M.M.Y.   +6 more
core   +1 more source

Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism

Cytogenetic and Genome Research, 2016
Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature.
C. Kaufman, A. Genovese, M. Butler
semanticscholar   +1 more source

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants [PDF]

, 2021
We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphism, and agenesis of the corpus callosum (ACC). The subsequent pregnancy was interrupted as the fetus was found to be also affected by ACC. Both cases were
Andrea Superti-Furga, Gaëlle Blanchard, Rivolta, C., Campos-Xavier, Belinda, Gengler, Carole, Blanchard, Gaëlle, Campos-Xavier, B., Virginie G. Peter, Quinodoz, M., Cina, Viviane, Superti-Furga, A., Carole Gengler, Quinodoz, Mathieu, Lebon, S., Mathieu Quinodoz, Viviane Cina, Belinda Campos-Xavier, Blanchard, G., Sébastien Lebon, Peter, V.G., Superti-Furga, Andrea, Rivolta, Carlo, Cina, V., Gengler, C., Lebon, Sébastien, Carlo Rivolta, Peter, Virginie G.   +26 more
core   +1 more source

Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.

, 2007
Immunodeficiency-centromeric instability-facial dysmorphism syndrome, characterized by variable immunodeficiency, centromeric instability, and facial anomalies caused by epigenetic dysregulation resulting in hypomethylation, is caused in many patients by
Slatter, M.A., Weemaes, C.M.R., Gennery, A.R., Lankester, A.C., Hagleitner, M.M., Cant, A.J., Bredius, R.G.   +6 more
core   +1 more source