Retraction Note: A Brief View of The Prophet Ayyub's (Alayhi As-Salam) Disease: Was It Job's Syndrome? [0.03%]
撤回 notice: 亚伯拉罕先生疾病简述：阿尤布先生得的是/job综合征吗？
Hüseyin Çaksen
Hüseyin Çaksen
An investigation by the publisher found a number of articles, including this one, published in Journal of Pediatric Genetics in Volume 12, Number 03, 185-186, in September 2023 (DOI: 10.1055/s-0043-1764300), with a number of concerns, inclu...
Retraction of Publication
Journal of pediatric genetics. 2024 Jan 19;13(3):252. DOI:10.1055/s-0044-1779461 2024
Retraction Note: Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective [0.03%]
撤回 notice:从伊斯兰教视角看父母对出生缺陷 supernatural原因的信仰：一篇综述
Hüseyin Çaksen
Hüseyin Çaksen
The above article published in Journal of Pediatric Genetics in Volume 12, Number 02 (DOI: 10.1055/s-0043-1761268), has been retracted as it is lacking scientific base. ...
Retraction of Publication
Journal of pediatric genetics. 2024 Jan 5;13(3):251. DOI:10.1055/s-0043-1774714 2024
Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia-Wolcott-Rallison's Syndrome [0.03%]
单中心临床经验：新生儿糖尿病伴多发骨骺发育不良-沃尔科特-拉尔森综合征
Shantala J,Zalak Upadhyay,Vani H N et al.
Shantala J et al.
Wolcott-Rallison's syndrome (WRS) is a rare nonautoimmune autosomal recessive disorder characterized by neonatal diabetes mellitus, epiphyseal dysplasia, and growth retardation. This is the most common cause of diabetes mellitus in patients...
Suttipong Wacharasindhu,Chupong Ittiwut,Rungnapa Ittiwut et al.
Suttipong Wacharasindhu et al.
Disorders of sex development (DSD) can be classified as 46,XX DSD, 46,XY DSD, and sex chromosome DSD. Several underlying causes including associated genes have been reported. Steroidogenic factor-1 is encoded by the NR5A1 gene, a crucial re...
A Common CHAT Gene Mutation of Congenital Myasthenic Syndrome Found in Kadazandusun Children [0.03%]
儿童先天性肌无力综合征的CHAT基因常见突变
Khian Aun Tan,Hui Bein Chew,Yusnita Yacob et al.
Khian Aun Tan et al.
Congenital myasthenic syndrome (CMS) is an uncommon inherited neuromuscular junction disease. The clinical presentation of this disorder is diverse. Typically patients with this disorder present with early-onset swallowing difficulty and ap...
A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: RASA3 [0.03%]
一种新的常染色体隐性候选基因与RASopathies样表型及骨髓衰竭相关：RASA3基因
Akif Ayaz,Zeynep Doğru,Kıvanç Kök et al.
Akif Ayaz et al.
Although many genetic etiologies, such as Fanconi anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, and Diamond-Blackfan anemia, from hereditary bone marrow failure are known today, the responsible gene remains unknown in a signif...
Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature [0.03%]
小脑脑干发育不全综合征9型：一例新变异类型及文献复习
Hanadi A Abdelrahman,Nadia Akawi,Aisha M Al-Shamsi et al.
Hanadi A Abdelrahman et al.
Pontocerebellar hypoplasia type 9 (PCH-9) is a very rare autosomal recessive neurodegenerative disorder. Affected infants present early with severe developmental delay, spasticity, with the unique magnetic resonance imaging picture of thin ...
Retraction Note: Importance of Religious Coping in Bereaved Parents after the Death of a Child with Genetic Disorder [0.03%]
撤回 notice:宗教应对在遗传病患儿去世后的丧亲父母中的重要性
Hüseyin Çaksen
Hüseyin Çaksen
An investigation by the publisher found a number of articles, including this one, published in Journal of Pediatric Genetics in Volume 12, Number 02, 95-96, in June 2023 (DOI: 10.1055/s-0042-1759781), with a number of concerns, including bu...
Retraction of Publication
Journal of pediatric genetics. 2024 Jan 19;13(3):250. DOI:10.1055/s-0044-1779450 2024
Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome [0.03%]
FLNB新变异与七例阿根廷脊椎软骨塔尔萨综合症患者相关性研究
R Ramos-Mejía,M Del Pino,M Aza-Carmona et al.
R Ramos-Mejía et al.
Spondylocarpotarsal synostosis syndrome (SCT) is a very rare skeletal dysplasia characterized by vertebral, carpal, and tarsal fusion; growth retardation; and mild dysmorphic facial features. Variants in FLNB, MYH3, and RFLNA have been impl...
Phosphofurin Acidic Cluster Sorting Protein 1 Syndrome: Insights Gained on the Multisystem Involvement Reviewing Encoded Protein Interactions? [0.03%]
磷脂酸富碱性簇排序蛋白1综合征：通过回顾编码蛋白质的相互作用获得对多系统受累的认识？
Seema Thakur,Preeti Paliwal,Rajni Farmania et al.
Seema Thakur et al.
Mutations in PACS1 cause moderate-to-severe intellectual disability. Very few cases of PACS1 neurodevelopment disorder have been described in the literature that were identified using whole exome sequencing (WES). We report a case of de nov...