A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases [0.03%]
新的临床诊断：周期性呕吐和膈肌松弛与mosaic三体18病例的更新综述
Magdolna Kósa,Emese Horváth,Tibor Kalmár et al.
Magdolna Kósa et al.
Although data on T18 are widespread, there is a lack of knowledge on mosaic trisomy 18 (mT18). A current review of mT18 symptomatology, long-term follow-up, and potential health risks is lacking for health care professionals. Our paper addr...
CDKN1C -Related Beckwith-Wiedemann Syndrome: First Patient from India [0.03%]
印度首例CDKN1C相关贝克威斯-沃利综合征患者报告
Veronica Arora,Aashita Takkar,Sudhisha Dubey et al.
Veronica Arora et al.
Beckwith-Wiedemann syndrome (BWS; MIM# 130650) is a well-characterized pediatric overgrowth disorder. In approximately 5% of the cases, it is caused by pathogenic variants in the CDKN1C (cyclin-dependent kinase inhibitor 1C). CDKN1C gene en...
Understanding the Endocrine and Molecular Signaling Cascade Regulation Pathways in Children with Hypospadias [0.03%]
低促性腺激素性性发育不良发病机制中下丘脑激素及表观遗传学研究
Raghunath V Bangalore,Suramya Asthana,Reshma V R et al.
Raghunath V Bangalore et al.
Hypospadias (HS) is a congenital defect that occurs due to defective androgenization. It is characterized by the aberrant location of the urinary meatus on the ventral aspect of the penis with various degrees of severity. The molecular mech...
Novel Case of Prader-Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management [0.03%]
普拉德-威利综合征和艾宾斯畸形的新病例：对复杂护理管理的启示
Donald Mattia,Christopher Lindblade,Oliver Oatman et al.
Donald Mattia et al.
We present a patient with a complex phenotype including diagnoses of Ebstein's anomaly and Prader-Willi syndrome (PWS) as well as additional congenital anomalies and genetic variants with potential clinical effects. This is the first report...
Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the ATP6V0A4 Gene and Review of the Literature on Associated Extrarenal Manifestations [0.03%]
新生儿远端肾小管性酸中毒的发病机制：关于ATP6V0A4基因两种新突变的描述和相关非肾脏表现文献综述
Marita Antoniadi,Dimitra Lambrou,Fani Mylona et al.
Marita Antoniadi et al.
Distal renal tubular acidosis (dRTA) is an extremely rare disease that affects the distal tubule's ability to excrete proton cations, acidify urine, and maintain the acid-base balance. The clinical presentation of dRTA typically includes no...
LPL Gene Mutation in Type 1 Familial Triglyceridemia Presenting as Recurrent Pancreatitis and Complicated by COVID19 [0.03%]
LPL基因突变导致的第一型家族性三酸甘油酯血症并发冠病病情复杂化並引起反覆胰腺炎发作
Dhanasekhar Kesavelu,Soundaram Valliyappan,Sarah Nalliannan et al.
Dhanasekhar Kesavelu et al.
A 7-year-old girl with recurrent episodes of pancreatitis with risk factor of poorly controlled hyperglyceridemia presented with an acute episode of pancreatitis. She was managed conservatively and underwent whole exome sequencing which sho...
Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder [0.03%]
3q13.33-3q21.2微缺失：一种罕见的神经发育障碍原因
Yi Juan Huang,Rong Pu Jia,Yuan Qiu Chen et al.
Yi Juan Huang et al.
Chromosomal sub-microscopic imbalances, such as microdeletions and microduplications, are associated with multiple genetic disorders. Here, we illustrate microdeletion 3q13.33q21.2 might be responsible for neurodevelopmental disorder in two...
rs1800890 Polymorphism of IL-10 and Susceptibility to Idiopathic Thrombocytopenic Purpura [0.03%]
IL-10基因 rs1800890多态性与特发性血小板减少性紫癜易感性的相关性研究
Fatemeh Zeylabi,Mohammad Taha Jalali,Gholam-Abbas Kaydani et al.
Fatemeh Zeylabi et al.
Immune thrombocytopenic purpura (ITP) is an immune bleeding disorder that is reported in approximately 2 out of every 100,000 adults with a mean age of 50 years. Several factors such as various genetic backgrounds are associated with the pa...
TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients [0.03%]
TWIST1基因变异导致亚洲患者的颅缝早闭症合并肢体异常
Shalini Dhiman,Inusha Panigrahi,Maryada Sharma et al.
Shalini Dhiman et al.
The TWIST1 gene codes for a highly conserved transcription factor in a basic helix-loop-helix transcription factors family. The pattern of inheritance is autosomal dominant in Saethre-Chotzen syndrome, Robinow-Sorauf syndrome, and Sweeney-C...
Phenotypic Heterogeneity of the Mitochondrial DNA Variant m.13513 G > A [0.03%]
线粒体DNA变异体m.13513 G > A的表型异质性
Josef Finsterer
Josef Finsterer
The mitochondrial DNA (mtDNA) variant m.13513G > A is increasingly recognized as a cause of syndromic and nonsyndromic mitochondrial disorders (MIDs). This minireview aims a summarizing and discussing recent and previous findings about the ...