Genetic Defects in Children with Cardiac Anomalies/Malformations: Noonan and CFC Syndromes [0.03%]
心脏异常/畸形儿童的遗传缺陷：Noonan 综合征和CFC综合征
Divya Kumari,Deepti Chaudhary,Inusha Panigrahi et al.
Divya Kumari et al.
Cardiac defects presenting in childhood show significant phenotypic and genetic heterogeneity. With availability of advanced genetic technologies, these can be detected early using specialized testing. Prenatal testing is currently feasible...
Erratum: Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients [0.03%]
勘误：两名埃及患者的Pallister-Killian综合征的临床多变性
Maha M Eid,Ola M Eid,Sawsan Abdel-Hadi et al.
Maha M Eid et al.
[This corrects the article DOI: 10.1055/s-0039-3400489.]. Thieme. All rights reserved.
Published Erratum
Journal of pediatric genetics. 2020 Sep;9(3):e1. DOI:10.1055/s-0039-3401827 2020
Erratum: Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver [0.03%]
校正：病因不明的 hilar纤维多囊肝病：移植肝的一个发现
Jagadeesh Menon,Mukul Vij,Naresh Shanmugam et al.
Jagadeesh Menon et al.
[This corrects the article DOI: 10.1055/s-0040-1716829.]. Thieme. All rights reserved.
Published Erratum
Journal of pediatric genetics. 2020 Nov 9;11(2):e1. DOI:10.1055/s-0040-1718945 2020
Harvinder Kaur,Anil Kumar Bhalla,Inusha Panigrahi
Harvinder Kaur
Growth charts are used to detect growth impairment, overweight, and obesity among Down syndrome (DS) children belonging to different population groups. Due to nonavailability of similar information, age, and gender specific body mass index ...
Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene [0.03%]
Canavan病新型ASPA基因突变的白质筛状改变
Maya Dattatraya Bhat,Netravathi Manjunath,Renu Kumari et al.
Maya Dattatraya Bhat et al.
Cribriform appearance of the brain in Canavan disease is a rare finding. The two presented cases broaden the magnetic resonance imaging (MRI) phenotype wherein numerous oval, cystic structures, a few resembling dilated Virchow-Robin (VR) sp...
De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia [0.03%]
沙特阿拉伯首例新颖的15号环状染色体：分子细胞遗传学和临床特征分析
Amal Alhashem,Saria Alazmeh,Ayla Barakat et al.
Amal Alhashem et al.
Ring chromosome 15 is a rare chromosomal disorder, which usually occurs during early embryonic development via spontaneous errors and has variable presentation. To date, 89 cases of this condition have been reported. This case report descri...
Analyzing Inbreeding and Estimating Its Related Deficiencies in Northeastern Brazil [0.03%]
巴西东北部的近亲结婚分析及其相关缺陷估计
Cristian Rodrigues do Nascimento,Dyowani Dos Santos Basílio,Johnnatas Mikael Lopes et al.
Cristian Rodrigues do Nascimento et al.
This cross-sectional study aimed to observe number of marriages between relatives in São Francisco Valley municipalities and correlations between degrees of kinship and susceptibility to genetic diseases. Three hundred and nine (309) consa...
A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene [0.03%]
SLC5A1基因新突变所致先天性葡萄糖半乳糖吸收不良症一例报告
Hasan Akduman,Dilek Dilli,Serdar Ceylaner
Hasan Akduman
Congenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent g...
Inusha Panigrahi,Parminder Kaur,Chakshu Chaudhry et al.
Inusha Panigrahi et al.
Syndromes causing short stature include Noonan syndrome (NS), Williams syndrome, and Silver-Russell syndrome (SRS). SRS is a primordial dwarfism with genetic heterogeneity. The SRS children present with prenatal growth retardation, neonatal...