Results 51 to 60 of about 1,007 (198)

CSNK2B Mutation: A Rare Cause of IGHD

Clinical Endocrinology, Volume 102, Issue 4, Page 421-426, April 2025.
ABSTRACT Objective Poirier‐Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous CSNKB2 pathogenic variants. The main presentations are severe epilepsy, delayed psychomotor development, and/or profound intellectual disability.
Karine Aouchiche, Pauline Romanet, Anne Barlier, Thierry Brue, Morgane Pertuit, Rachel Reynaud, Alexandru Saveanu   +6 more
wiley   +1 more source

Heterogeneity versus variability in Neuhauser megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types

, 1993
peer reviewedMegalocornea (corneal diameter > or = 13 mm) is associated with mental and neurological impairment, and minor anomalies in Neuhauser syndrome (megalocornea-mental retardation syndrome).
VERLOES, A, Josseline Kaplan, JOURNEL, H, Catherine Elmer, Meire, F., Lionel Van Maldergem, Kaplan, J., Verloes, Alain, Misson, Jean-Paul, LEMERRER, M, Françoise Meire, Alain Verloes, Van Maldergem, Lionel, DECONINCK, H, Hubert Journel, Elmer, C., ELMER, C, Journel, H., KAPLAN, J, H. Deconinck, Le Merrer, M., Deconinck, H., Meire, Françoise, VANMALDERGEM, L, Martine Le Merrer, Jean‐Paul Misson, MISSON, JP   +26 more
core   +1 more source

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 196, Issue 4, December 2024.
Abstract COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2‐related manifestations is challenging, and there is no consensus on management and preventative strategies. Based on a systematic review of current evidence on COL4A1/2‐related disease, we developed a clinical ...
Simone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, Giacomo Bacci, Giorgia Panichella, Martino Montomoli, Gaetano Cantalupo, Stefania Bigoni, Giorgia Mancano, Simona Pellacani, Vincenzo Leuzzi, Nila Volpi, Francesco Mari, Federico Melani, Mara Cavallin, Tiziana Pisano, Giulio Porcedda, Augusto Vaglio, Davide Mei, Carmen Barba, Elena Parrini, Renzo Guerrini   +21 more
wiley   +1 more source

Childhood glaucoma: Implications for genetic counselling

Clinical Genetics, Volume 106, Issue 5, Page 545-563, November 2024.
Venn diagram representation of genes for which pathogenic variants have been identified to cause various types of childhood glaucoma. This diagram represents the genetic and phenotypic heterogeneity of childhood glaucoma illustrating the need for informed genetic counselling and testing as part of a multidisciplinary approach.
Giorgina Maxwell, Emmanuelle Souzeau
wiley   +1 more source

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.

, 2010
The latent TGFbeta-binding proteins (LTBPs) and fibrillins are a superfamily of large, multidomain proteins with structural and TGFbeta-signalling roles in the extracellular matrix. Their importance is underscored by fibrillin-1 mutations responsible for
Abramowicz, Marc, Roulez, Françoise, Sznajer, Yves, Marc Abramowicz, Désir, Julie, Françoise Roulez, Yves Sznajer, Meire, Françoise M, Depasse, Fanny, Julie Désir, Marc Schrooyen, Françoise Meire, Schrooyen, Marc, Fanny Depasse   +13 more
core   +1 more source

Unusual presentation in Axenfeld-Rieger syndrome

Indian Journal of Ophthalmology, 2011
We report an unusual presentation of a case of Axenfeld-Rieger (A-R) syndrome. A 14-year-old male presented with gradual dimness of vision for 1 year and redness of left eye for 3 days. The patient had megalocornea with Haab′s striae in the right eye and
Rajul S Parikh, Shefali R Parikh, B Debashish, B L Harsha, Ravi Thomas   +4 more
doaj   +1 more source

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. [PDF]

, 2012
X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth and later onset of mosaic corneal degeneration (shagreen), arcus juvenilis, and presenile ...
Jane C. Sowden, Pennell, CE, Matarin, M, Sanjay M. Sisodiya, Seyhan Yazar, Alison J. Hardcastle, Cheetham, ME, Graham E. Holder, Anthony T. Moore, Jessica C. Gardner, Elias I. Traboulsi, Ruddle, JB, Hassan, H, Mackey, DA, Jonathan B. Ruddle, David A. Mackey, Webb, TR, Moore, AT, Hala Hassan, Khor, CC, Sisodiya, SM, Robson, AG, Stephen J. Tuft, Dan Kelberman, Wei Ang, Tin Aung, Ang, W, Yazar, S, Kelberman, D, Sowden, JC, Gardner, JC, Michel Michaelides, Hardcastle, AJ, Anthony G. Robson, Michael E. Cheetham, Chiea C. Khor, Tuft, SJ, Mahinda Yogarajah, Mar Matarin, Holder, GE, Aung, T, Michaelides, M, Craig E. Pennell, Yogarajah, M, Traboulsi, EI, Tom R. Webb   +45 more
core   +1 more source

TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families

American Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.
Abstract Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with
Oscar Francisco Chacon‐Camacho, Thania Ordaz‐Robles, Marion Aline Cid‐García, María Enriqueta Hofmann‐Blancas, Jasbeth Ledesma‐Gil, María Magdalena García‐Huerta, Carolina Prado‐Larrea, Vianney Cortés‐González, Rodrigo Isaac Lozano‐Garza, Daphne García‐Vega, JiHye Kim, Rin Khang, Eugene Lee, Juan Carlos Zenteno   +13 more
wiley   +1 more source

Neuhauser syndrome: A rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation

, 2013
Megalocornea can be observed as an isolated abnormality that is inherited by an X-linked mechanism, or it can be associated with other entities. Megalocornea-mental retardation syndrome, also known as Neuhauser syndrome, is a rare autosomal recessive ...
Arnaud, L., Macias-Gomez, N.M., Barros-Nunez, P., Gutierrez-Amavizca, B.E., Orozco-Castellanos, R., Juarez-Vazquez, C.I.   +5 more
core   +1 more source

Ocular manifestations in a cohort of 43 patients with KBG syndrome

American Journal of Medical Genetics Part A, Volume 194, Issue 4, April 2024.
Abstract Ophthalmological conditions are underreported in patients with KBG syndrome, which is classically described as presenting with dental, developmental, intellectual, skeletal, and craniofacial abnormalities. This study analyzed the prevalence of four ophthalmological conditions (strabismus, astigmatism, myopia, hyperopia) in 43 patients with KBG
Drake C. Carter, Ola Kierzkowska, Kathleen Sarino, Lily Guo, Elaine Marchi, Gholson J. Lyon   +5 more
wiley   +1 more source