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Keywords: Immunodeficiency
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Journal Articles

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

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Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Hatice Ceren Eser, Durdugul Ayyildiz Emecen, Ezgi Topyildiz, Esra Isik, Neslihan Edeer Karaca, Tahir Atik, Guzide Aksu, Ferda Ozkinay, Necil Kutukculer
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (6): 504–508.
https://doi.org/10.1159/000531408
Published Online: 07 August 2023
... diarrhea, facial dysmorphism, hair abnormality, immunodeficiency, and skin abnormalities. Lipoid proteinosis is caused by pathogenic mutations in ECM1 gene and characterized by deposition of hyaline-like material in various tissues resulting in heterogenous clinical findings. Case Presentation: Four years...
View articletitled, Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child
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Journal Articles

Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the MAPK1 Gene

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Ana I. Sánchez, Mary A. García-Acero, Angela Paredes, Rossi Quero, Rita I. Ortega, Jorge A. Rojas, Daniel Herrera, Miguel Parra, Karol Prieto, Juana Ángel, Luz-Stella Rodríguez, Juan C. Prieto, Manuel Franco
Journal: Molecular Syndromology
Mol Syndromol (2020) 11 (1): 15–23.
https://doi.org/10.1159/000506032
Published Online: 05 February 2020
...Ana I. Sánchez; Mary A. García-Acero; Angela Paredes; Rossi Quero; Rita I. Ortega; Jorge A. Rojas; Daniel Herrera; Miguel Parra; Karol Prieto; Juana Ángel; Luz-Stella Rodríguez; Juan C. Prieto; Manuel Franco The genetic basis for sporadic immunodeficiency in patients with 22q11.2 distal deletion...
View articletitled, Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the MAPK1 Gene
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Journal Articles

Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Veronica Arora, Shruti Aggarwal, Sunita Bijarnia, Meena Lall, Anju Joshi, Ratna Dua-Puri, Umang Arora, Ishwar Verma
Journal: Molecular Syndromology
Mol Syndromol (2019) 9 (6): 312–318.
https://doi.org/10.1159/000494995
Published Online: 14 December 2018
..., such as immunodeficiency, asymmetry of hands and feet, joint laxity, and agenesis of corpus callosum. The clinical features of this patient are compared with 13 patients reported previously. A common critical region (CCR) of 1.4 Mb (54-55.4 Mb) is defined in all cases including the present one. Of the 14 genes present...
View articletitled, Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome
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