DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 03 · Volume 09 · September 2020 DOI: 10.1055/s-010-49013

Erratum

e1
Eid, Maha M.; Eid, Ola M.; Abdel-Hadi, Sawsan; Hassib, Nehal; Madian, Abdelrahman; Afifi, Hanan H.; Abdel-Salam, Ghada M.H.: Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

Review Article

149
Glaeser, Andressa Barreto; Diniz, Bruna Lixinski; Deconte, Desirée; Santos, Andressa Schneiders; Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola: Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review
158
Poling, Mikaela I.; Dufresne, Craig R.; McCormick, Rodger J.: Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman–Burian Syndrome: Principles for Global Treatment

Original Article

164
Al-Haggar, Mohammad; Osman, Engy; Eid, Abdel-Rahman; Barakat, Tarek; El-Morsi, Samar: Screening for the Most Common Mutations of CFTR Gene among Egyptian Children with Difficult-to-Treat Asthma
171
Civan, Hasret A.; Seyhan, Serhat: Molecular Heterogeneity in Cystic Fibrosis
177
Pavone, Piero; Pappalardo, Xena Giada; Praticò, Andrea Domenico; Polizzi, Agata; Ruggieri, Martino; Piccione, Maria; Corsello, Giovanni; Falsaperla, Raffaele: Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis

Case Report

183
Sharma, Sonia: Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology
186
Bossi, Grazia; Errichiello, Edoardo; Zuffardi, Orsetta; Marone, Piero; Monzillo, Vincenzina; Barbarini, Daniela; Vergori, Antonio; Bassi, Lorenzo Andrea; Rispoli, Gaetana Anna; De Amici, Mara; Zecca, Marco: Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant
193
Anant, Monika; Raj, Nutan; Yadav, Neelu; Prasad, Arun; Kumar, Subhash; Saxena, Ajit K.: Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer–Rokitansky–Kuster–Hauser Syndromes
198
Abo El Fotoh, Wafaa Moustafa M.; Al-fiky, Amira Fathy: A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12
203
Jia, Yue; Yue, Changjun; Bradford, Kathryn; Qing, Xin; Panosyan, Eduard H.; Gotesman, Moran: Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review
207
Eid, Maha M.; Eid, Ola M.; Abdel-Hadi, Sawsan; Hassib, Nehal; Madian, Abdelrahman; Afifi, Hanan H.; Abdel-Salam, Ghada M. H.: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients
211
Oyetunji, Aderonke; Butler, Merlin G.: 22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature