Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant

Autor: Hailey Pinz, Teresa Andreone, Sara E Starnes, Stephen R. Braddock, Miguel A. Guzman, Manasa Karumuri, Timothy D. Gauntner, Sherri Besmer

Publikováno v: Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 3, Pp 1518-1523 (2021)

L1syndrome is an X‐linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the L1CAM gene thought to underlie both. We pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91766c95c7557ef950be44c5ea9bc053
https://doi.org/10.1002/ccr3.3816

Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency

Autor: Naomichi Matsumoto, Heng H Sin, Keng Wee Teik, Shuhei Yamada, Ai Unzaki, Shuji Mizumoto, Fransiska Malfait, Sara Markholt, Noriko Miyake, Charlotte Kvist Lautrup, Tomoki Kosho, Delfien Syx, Irene K Nielsen

Publikováno v: Lautrup, C K, Teik, K W, Unzaki, A, Mizumoto, S, Syx, D, Sin, H H, Nielsen, I K, Markholt, S, Yamada, S, Malfait, F, Matsumoto, N, Miyake, N & Kosho, T 2020, ' Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency ', Molecular Genetics & Genomic Medicine, vol. 8, no. 5, e1197 . https://doi.org/10.1002/mgg3.1197
Lautrup, C K, Teik, K W, Unzaki, A, Mizumoto, S, Syx, D, Sin, H H, Nielsen, I K, Markholt, S, Yamada, S, Malfait, F, Matsumoto, N, Miyake, N & Kosho, T 2020, ' Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency ', Molecular Genetics and Genomic Medicine, vol. 8, no. 5, e1197 . https://doi.org/10.1002/mgg3.1197
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
MOLECULAR GENETICS & GENOMIC MEDICINE

Background Musculocontractural Ehlers–Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss‐of‐function variants in CHST14 (mcEDS‐CHST14) or DSE (mcEDS‐DSE), both of which result in defective dermatan sulfate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f133c402e10fe1412ecd953cbe904f22
https://vbn.aau.dk/da/publications/0ce17010-1cfc-4ce5-87ae-68d4726bae75

Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment: A STROBE compliant study

Autor: Xining Wu, Hua Meng, Yunshu Ouyang, Qingwei Qi, Yi-xiu Zhang

Publikováno v: Medicine

Fetal adducted thumbs have been described in association with hydrocephalus and other abnormalities, but in cases without other structural malformations the determination of prognosis and recurrence risk is challenging. The aim of our study is to ana

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b50317ec0fed2e99ea59f0742f64620
https://pubmed.ncbi.nlm.nih.gov/30235725

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Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations

Autor: Tahir Atik, Ozgur Cogulu, Esra Isik, Hüseyin Onay, Ferda Ozkinay, Bilçağ Akgün

WOS: 000442980000003
PubMed ID: 29960101
L1 syndrome is a rare X linked recessive disorder caused bygene mutations in the L1 cell adhesion molecule (L1CAM), and characterized by hydrocephalus, intellectual disability, adducted thumbs and sp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::293495c50bcd5ca00f33d992eb8aa79d
https://hdl.handle.net/11454/30070