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Flavio Faletra, Emmanouil Athanasakis, Federico Minen, Federico Fornasier, Federico Marchetti & Paolo Gasparini. (2011) Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. Ophthalmic Genetics 32:4, pages 256-258.
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Articles from other publishers (17)
Antionette L. Williams & Brenda L. Bohnsack. (2022) Zebrafish Model of Stickler Syndrome Suggests a Role for Col2a1a in the Neural Crest during Early Eye Development. Journal of Developmental Biology 10:4, pages 42.
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Ao Zhang, Aarya Venkat, Rahil Taujale, James L. Mull, Atsuko Ito, Natarajan Kannan & Robert S. Haltiwanger. (2021) Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase. Journal of Biological Chemistry 297:1, pages 100843.
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A. S. Ma, J. R. Grigg & R. V. Jamieson. (2018) Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis. Human Genetics 138:8-9, pages 899-915.
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Deepak Khatri, JaskaranS Gosal, KuntalK Das & KamleshS Bhaisora. (2019) Peter plus syndrome: A neurosurgeon’s perspective. Journal of Pediatric Neurosciences 14:3, pages 148.
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Rita Francisco, Carlota Pascoal, Dorinda Marques‐da‐Silva, Eva Morava, Glen A. Gole, David Coman, Jaak Jaeken & Vanessa dos Reis Ferreira. (2019) Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review. Journal of Inherited Metabolic Disease 42:1, pages 29-48.
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Jessica Eason, Antionette L. Williams, Bahaar Chawla, Christian Apsey & Brenda L. Bohnsack. (2017) Differences in neural crest sensitivity to ethanol account for the infrequency of anterior segment defects in the eye compared with craniofacial anomalies in a zebrafish model of fetal alcohol syndrome. Birth Defects Research 109:15, pages 1212-1227.
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IyerHarohalli Venkatesh & Shruthi Purushotham. (2017) Type 1 Peter's anomaly-a cause for corneal opacity in a neonate. Journal of Clinical Neonatology 6:1, pages 43.
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Karlijn F. de Nie, Pieter Wesseling & Catharina A. Eggink. (2016) Unique Presentation of Corneal Opacity in Peters Plus Syndrome. Cornea 35:2, pages 277-280.
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E. Weh, L.M. Reis, R.C. Tyler, D. Bick, W.J. Rhead, S. Wallace, T.L. McGregor, S.K. Dills, M.-C. Chao, J.C. Murray & E.V. Semina. (2014)
Novel
B3GALTL
mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
. Clinical Genetics 86:2, pages 142-148.
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Afif Ben Mahmoud, Olfa Siala, Riadh Ben Mansour, Fatma Driss, Siwar Baklouti-Gargouri, Emna Mkaouar-Rebai, Neila Belguith & Faiza Fakhfakh. (2013) First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome. Gene 532:1, pages 13-17.
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Rabah M. Shawky, Solaf M. Elsayed, Heba S. Abd-Elkhalek & Shimaa Gad. (2013) Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: Expanding the clinical spectrum. Egyptian Journal of Medical Human Genetics 14:4, pages 423-428.
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Mustafa A. Salih, Andreas Tzschach, Darren T. Oystreck, Hamdy H. Hassan, Abdulmajeed AlDrees, Salah A. Elmalik, Heba Y. El Khashab, Thomas F. Wienker, Khaled K. Abu‐Amero & Thomas M. Bosley. (2013) A newly recognized autosomal recessive syndrome affecting neurologic function and vision. American Journal of Medical Genetics Part A 161:6, pages 1207-1213.
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Orazio Palumbo, Leonardo D'Agruma, Adelaide Franca Minenna, Pietro Palumbo, Raffaella Stallone, Teresa Palladino, Leopoldo Zelante & Massimo Carella. (2013) 3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination. Gene 516:1, pages 107-113.
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Aruyaru Stanley Mwenda. (2012) Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report. Journal of Medical Case Reports 6:1.
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Olfa Siala, Neila Belguith, Hassen Kammoun, Bourane Kammoun, Nedia Hmida, Imen Chabchoub, Mongia Hchicha & Faiza Fakhfakh. (2012) Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure. Gene 507:1, pages 68-73.
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Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena A. Repnikova, Julie Gastier-Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colby Chiang, Carrie Hanscom, Carl Ernst, Amelia M. Lindgren, Cynthia C. Morton, Yu An, Caroline Astbury, Louise A. Brueton, Klaske D. Lichtenbelt, Lesley C. Ades, Marco Fichera, Corrado Romano, Jeffrey W. Innis, Charles A. Williams, Dennis Bartholomew, Margot I. Van Allen, Aditi Parikh, Lilei Zhang, Bai-Lin Wu, Robert E. Pyatt, Stuart Schwartz, Lisa G. Shaffer, Bert B.A. de Vries, James F. Gusella & Sarah H. Elsea. (2011) Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder. The American Journal of Human Genetics 89:4, pages 551-563.
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Linda M. Reis & Elena V. Semina. (2011) Genetics of anterior segment dysgenesis disorders. Current Opinion in Ophthalmology 22:5, pages 314-324.
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