del Pino, M;

Aza-Carmona, M;

Abbate, S;

Obregon, M G.;

Heath, K E.;

Fano, V:


Novel

FLNB

Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome

Al Hinai, Mariya;

Al Hosni, Alya;

Al Amrani, Fatima;

Al Maimani, Ashwaq;

Al Maki, Nabil;

Al Hashmi, Nadia:


Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in

PIEZO2

Gene in Omani Patients and a Genotype–Phenotype Review from a Single-Center Experience

Ittiwut, Chupong;

Ittiwut, Rungnapa;

Aroonparkmongkol, Suphab;

Suphapeetiporn, Kanya:


A Novel

NR5A1

Mutation in a Thai Boy with 46, XY DSD

Upadhyay, Zalak;

N., Vani H.;

Sathyanarayana, Santhosh Olety;

Palany, Raghupathy;

J., Shruthi:


Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia—Wolcott–Rallison’s Syndrome

Doğru, Zeynep;

Kök, Kıvanç;

Bayram, Nihan;

Yaman, Yöntem;

Köseoğlu, Abdullah Hüseyin;

Yiğitbaşı, Türkan;

Öztürk Demir, Aslı Güner;

Yüksel, Elçin;

Dundar, Burcu;

Çaralan, Erdal Fırat;

Nepesov, Serdar;

Elli, Murat:


A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure:

RASA3

Sugumar, Kiruthiga;

Sundaravel, Selvamanojkumar;

Ramamoorthy, Jaikumar Govindaswamy;

Bathula, Siddardha;

Dutta, Usha R.:


Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome

Osatakul, Seksit;

Intusoma, Utcharee;

Maneechay, Wanwisa;

Sangkhathat, Surasak:


A Novel Mutation of

ORNT1

Detected in a Hyperornithinemia–Hyperammonemia–Homocitrullinuria Syndrome Child by Clinical Whole-Exome Sequencing

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Omar, Nesrin Ben;

Doggah, Milad:


Homozygous

TBCE

Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients

Akawi, Nadia;

Al-Shamsi, Aisha M.;

Al-Gazali, Lihadh;

Ali, Bassam R.:


Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature

Bharadwaj, Ravi;

Malhotra, Smita;

Sibal, Anupam:


Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

Gupta, Manish Kumar;

Sherwani, Poonam;

Verma, Prashant Kumar:


Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies in a Young Infant: First Case Entity of Casamassima–Morton–Nance Syndrome from Asia

Chew, Hui Bein;

Yacob, Yusnita;

Khoo, Teik Beng:


A Common

CHAT

Gene Mutation of Congenital Myasthenic Syndrome Found in Kadazandusun Children

Alemayehu, Hanna;

Bhat, Ramachandra;

Zayek, Michael:


Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review

Paliwal, Preeti;

Farmania, Rajni;

Khandelwal, Vipin;

Garg, Vivek:


Phosphofurin Acidic Cluster Sorting Protein 1 Syndrome: Insights Gained on the Multisystem Involvement Reviewing Encoded Protein Interactions?