DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 04 · Volume 12 · Dezember 2023 DOI: 10.1055/s-013-58841

Corrigendum

e1
Cammarata-Scalisi, Francisco; Matysiak, Uta; Willoughby, Colin E.; Ruzaike, Gunda; Cárdenas Tadich, Antonio; Araya Castillo, Maykol; Zara-Chirinos, Carmen; Bracho, Ana; Avendaño, Andrea; Jilani, Houweyda; Callea, Michele: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

Review Article

263
Ibarra-Ramírez, Marisol; Campos-Acevedo, Luis Daniel; Martínez de Villarreal, Laura E.: Chromosomal Abnormalities of Interest in Turner Syndrome: An Update

Original Article

273
Prapasrat, Chanita; Onsod, Preyaporn; Korkiatsakul, Veerawat; Rerkamnuaychoke, Budsaba; Wattanasirichaigoon, Duangrurdee; Chareonsirisuthigul, Takol: The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader–Willi Syndrome in Thai Patients
Supplementary Material
280
Gowda, Vykuntaraju K.; Raj, Anusha; Vamyanmane, Dhananjaya K.; Nagarajappa, Vani H.; Srinivas, Sahana M.; Tirumale, Rajalakshmi; Ranganath, Jaya; Gaddehosur, Chandan; Vishwanathan, Gurudatta B.: Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis
288
Akin-Bali, Dilara Fatma; Doganay Erdogan, Beyza; Aslar Oner, Deniz; Mahmud, Akkan; Tasdelen, Serpil; Kurekci, Emin; Akar, Nejat; Ozdag Sevgili, Hilal: Genetic Profiling of Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia
Supplementary Material
301
Machado, Roberta Ismael Lacerda; Souza, Paulo Victor Sgobbi de; Farias, Igor Braga; Badia, Bruno de Mattos Lombardi; Filho, José Marcos Vieira de Albuquerque; Lima, Ricello José Vieira; Pinto, Wladimir Bocca Vieira de Rezende; Oliveira, Acary Souza Bulle: Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot–Marie–Tooth's Disease in Brazil
Supplementary Material

Case-Based Review

308
Poon, Kok-Siong; Tan, Karen Mei-Ling; Zacharin, Margaret; Ho, Cindy Wei-Li: A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl
312
Xia, Changqing; Kumar, Dibyendu; You, Bei; Streck, Deanna L.; Osborne, Lisa; Dermody, James; Jiang, Jie-Gen; Pletcher, Beth A.: Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature
318
Singanamalla, Bhanudeep; Kesavan, Shivan; Aggarwal, Divya; Chatterjee, Debajyoti; Urtizberea, Andoni; Suthar, Renu: Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy
325
Sharma, Sonia; Gupta, Shailesh; Mehta, A. P.; Sidana, Poonam: Infantile Galactosialidosis with Novel Mutation: An Early Presentation
329
Kaur, Tripat; Sriram, Chenni S.; Prasanna, Priyanka; Kohli, Utkarsh: Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome
Supplementary Material Supplementary Material
335
Sturgis, Morgan R.; Wrobel, Kathryn E.; Bosco, Gianna N.; Jones, Carolyn H.: Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome
339
Cammarata-Scalisi, Francisco; Matysiak, Uta; Willoughby, Colin E.; Ruzaike, Gunda; Cárdenas Tadich, Antonio; Araya Castillo, Maykol; Zara-Chirinos, Carmen; Bracho, Ana; Avendaño, Andrea; Jilani, Houweyda; Callea, Michele: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1
342
Chaudhry, Chakshu; Kumari, Divya; Panigrahi, Inusha; Kaur, Parminder: Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations
348
Candelaria, Gabriela de Toledo Passos; Antunes, Alexandre de A.; Pastorino, Antonio C.; Dorna, Mayra de B.; Zanardo, Evelin A.; Dias, Alexandre T.; Sugayama, Sofia M. M.; Odone-Filho, Vicente; Kulikowski, Leslie D.; Garanito, Marlene P.: Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss

Letter to the Editor

352
John, Elizabeth Mary; Sathyan, Sajina; Pournami, Femitha; Prithvi, Ajai Kumar; Nandakumar, Anand; Prabhakar, Jyothi; Jain, Naveen: CODE Think! Rare Mutations of STX3 Causing Microvillus Inclusion Disease