Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature [0.03%]
ALOX12B基因同合子突变所致的 autosomal recessive congenital ichthyosis 和 steroid-resistant nephrotic syndrome 的一种新的关联及文献复习
Lesa Dawman,Anit Kaur,Ritambhra Nada et al.
Lesa Dawman et al.
Nephrotic syndrome (NS) associated with autosomal recessive congenital ichthyosis (ARCI) is a rare association. In this article, we described a 4-year-old boy with steroid-resistant NS (SRNS) who had a history of ichthyotic skin lesions sin...
Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing [0.03%]
分子遗传学检测证实的22q11.2缺失综合征的临床预测特征分析
Kitiwan Rojnueangit,Thanitchet Khetkham,Preyaporn Onsod et al.
Kitiwan Rojnueangit et al.
The 22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome with a wide variety of clinical features. However, as there are no clinical criteria for diagnosis, confirmation is solely done by genetic tests if clinici...
Erythrocyte Complement Receptor 1 Gene Polymorphisms and Neonatal Respiratory Distress Syndrome [0.03%]
红细胞补体受体1基因多态性与新生儿呼吸窘迫综合征的关系
Walaa Rabie,Ahmed Al-Taweel,Walaa A Abuelhamd et al.
Walaa Rabie et al.
To evaluate the role of erythrocyte complement receptor 1 ( ECR1 ) gene in the predisposition to respiratory distress syndrome (RDS), we studied 50 infants with RDS and 50 controls. Real-time polymerase chain reaction allelic discrimination...
Manisha Ray,Saurav Sarkar,Mukund Namdev Sable
Manisha Ray
Congenital nonsyndromic hearing loss (NSHL) has been considered as one of the most prevalent chronic disorder in children. It affects the physical and mental conditions of a large children population worldwide. Because of the genetic hetero...
Prolapsed Rectum and Risk Factors in Prader-Willi Syndrome: A Case-Based Review [0.03%]
普拉德-威利综合征直肠脱垂及危险因素：基于病例的回顾
Merlin G Butler
Merlin G Butler
A 14-year-old male adolescent patient with Prader-Willi syndrome (PWS) with maternal disomy 15 was reported with rectal prolapse as only the second patient in the literature. With predisposing risk factors present for rectal damage and prol...
A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1 [0.03%]
一名儿童中出现的新4q32.3缺失：更多的征候及MARCH1的作用
Xena Giada Pappalardo,Martino Ruggieri,Raffaele Falsaperla et al.
Xena Giada Pappalardo et al.
The 4q deletion syndrome is an uncommon condition manifesting with broad clinical expression and phenotypic variability. We report a 5-year-old boy affected by 4q deletion syndrome who showed minor craniofacial features, growth failure, mil...
Implications of a Genetic Etiology for Renal Transplant: Early-Onset Alport Syndrome with a Novel Mutation [0.03%]
遗传病因对肾移植的含义：具有新型突变的早发性阿尔波特综合症
Ravi Kumar Singh,Veronica Arora,Vaibhav Tiwari et al.
Ravi Kumar Singh et al.
Alport's syndrome (AS) is a rare disorder characterized by a triad of deafness, progressive renal dysfunction, and ocular abnormalities. We presented a patient of early onset AS with a novel frameshift pathogenic variant in the COL4A5 gene ...
Partial Trisomy 16q21-q24.3 with Novel Cardiac Manifestation of Left Ventricular Noncompaction Cardiomyopathy: A Case Report [0.03%]
16q21-q24.3部分三体伴心脏左室心肌非致密型表现一例报告
Aradhana Dwivedi,Vivek Kumar,H Ravi Ramamurthy
Aradhana Dwivedi
Partial trisomy 16q is most often a consequence of malsegregation from a balanced parental translocation involving chromosome 16q. It is characterized by nonspecific craniofacial dysmorphic features, hypotonia, developmental delay, psychomo...
Novel UGT1A1 Gene Mutations in a Boy with Crigler-Najjar Syndrome Type II [0.03%]
克里格勒-纳贾尔综合征II型男孩的UGT1A1基因新突变
David Pérez-Solís,Bárbara Montes-Zapico,Ana-Cristina Rodríguez-Dehli et al.
David Pérez-Solís et al.
In this article, we reported a patient with Crigler-Najjar syndrome type II with high-unconjugated bilirubin levels that decreased after phenobarbital treatment. The patient had two novel missense mutations in the UGT1A1 gene and a promoter...
Trisomy 21 and Ebstein Anomaly: Diagnosis and Prognosis of a Rare Association [0.03%]
21三体和埃布斯坦异常：一种罕见关联的诊断与预后
Gabriela Rangel Brandão,Amanda Thum Welter,Gabriel Dotta Abech et al.
Gabriela Rangel Brandão et al.
Trisomy 21 is considered the most common chromosomal aneuploidy, and congenital heart disease (CHD) is highly prevalent and relevant to the morbidity and mortality of these patients. Ebstein anomaly (EA) is a rare CHD characterized by tricu...