Skip Nav Destination
Issues
February 2024
-
Cover Image
Cover Image
- PDF Icon PDF LinkFront Matter
ISSN 1661-8769
EISSN 1661-8777
In this Issue
Molecular Syndromology 2024, Vol. 15, No. 1
Original Article
A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome
Cüneyd Yavaş; Nehir Ozdemir Ozgenturk; Mustafa Dogan; Alper Gezdirici; Ece Keskin; Ezgi Gokpınar İli; Tunay Dogan; Evrim Celebi; Onur Bender; Cemal Un
Mol Syndromol (2024) 15 (1): 1–13.
https://doi.org/10.1159/000533915
Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders
Mol Syndromol (2024) 15 (1): 22–29.
https://doi.org/10.1159/000534123
TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2
Nahid Vafaei; Ali Mohebbi; Zahra Rezaei; Morteza Heidari; Sareh Hosseinpour; Ali Zare Dehnavi; Azin Ghamari; Masoud Salehipour; Ali Rabbani; Nejat Mahdieh; Mahmoud Reza Ashrafi
Mol Syndromol (2024) 15 (1): 30–36.
https://doi.org/10.1159/000534100
Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population
Mol Syndromol (2024) 15 (1): 37–42.
https://doi.org/10.1159/000533637
Novel Insights from Clinical Practice
A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient
Subject Area:
Genetics
Mol Syndromol (2024) 15 (1): 43–50.
https://doi.org/10.1159/000530585
A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene
Subject Area:
Genetics
Jorge Román Corona-Rivera; Izabel Maryalexandra Rios-Flores; Juan Carlos Zenteno; Christian Peña-Padilla; Katia Castillo-Reyes; Lucina Bobadilla-Morales; Alfredo Corona-Rivera; Elizabeth Acosta-Fernández; Alejandro Bruckman-Jiménez
Mol Syndromol (2024) 15 (1): 51–57.
https://doi.org/10.1159/000531934
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report
Subject Area:
Genetics
Lucas Augusto Hauschild; Taciana Seixas Maia da Silva; Pablo Brea Winckler; Laércio Moreira Cardoso-Júnior; Jonas Alex Morales Saute; Karina Carvalho Donis
Mol Syndromol (2024) 15 (1): 58–62.
https://doi.org/10.1159/000533219
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature
Subject Area:
Genetics
Margherita Baga; Ivan Ivanovski; Gianluca Contrò; Stefano Giuseppe Caraffi; Carlotta Spagnoli; Carlo Alberto Cesaroni; Alberto Neri; Francesca Peluso; Marzia Pollazzon; Livia Garavelli; Carlo Fusco
Mol Syndromol (2024) 15 (1): 63–70.
https://doi.org/10.1159/000530410
Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement
Subject Area:
Genetics
Mol Syndromol (2024) 15 (1): 71–76.
https://doi.org/10.1159/000531769
A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate
Subject Area:
Genetics
Aysenur Kardas Yildiz; Ali Bulbul; Buse Ozer Bekmez; Ayberk Turkyilmaz; Kerem Terali; Aydilek Dagdeviren Cakir; Ahmet Ucar
Mol Syndromol (2024) 15 (1): 77–82.
https://doi.org/10.1159/000533986
Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome
Subject Area:
Genetics
Cansu Kethuda Ensert Cihan; Halil Tuna Akar; Yılmaz Yıldız; Merve Sogukpinar; Gulen Eda Utine; Hasan Tolga Çelik
Mol Syndromol (2024) 15 (1): 83–88.
https://doi.org/10.1159/000534380
