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Molecular Syndromology 2022, Vol. 13, No. 6
Review Article
Gene Mutations in Cushing’s Syndrome
Mol Syndromol (2022) 13 (6): 459–470.
https://doi.org/10.1159/000524267
Original Article
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
Cynthia Silveira; Karina da Costa Silveira; Maria D. Lacarrubba-Flores; Maurício T. Sakata; Silvia N. Carbognani; Juan Llerena Jr.; Carolina A. Moreno; Denise P. Cavalcanti
Mol Syndromol (2022) 13 (6): 485–495.
https://doi.org/10.1159/000525020
Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1
Mol Syndromol (2022) 13 (6): 496–510.
https://doi.org/10.1159/000524710
Novel Insights from Clinical Practice
Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder
Mol Syndromol (2022) 13 (6): 517–521.
https://doi.org/10.1159/000524375
Hydrocephalus and Growth Retardation: A Fetal RNU4ATAC-opathy Missed by Whole-Exome Sequencing
Mol Syndromol (2022) 13 (6): 522–526.
https://doi.org/10.1159/000524501
Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p
Vanessa T. Almeida; Samar N. Chehimi; Yanca Gasparini; Amom M. Nascimento; Gleyson F.S. Carvalho; Marília M. Montenegro; Évelin Aline Zanardo; Alexandre T. Dias; Nilson A. Assunção; Chong A. Kim; Leslie D. Kulikowski
Mol Syndromol (2022) 13 (6): 527–536.
https://doi.org/10.1159/000524371
Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions
Mol Syndromol (2022) 13 (6): 537–542.
https://doi.org/10.1159/000524703
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel
Mol Syndromol (2022) 13 (6): 543–550.
https://doi.org/10.1159/000524844