A Novel Mutation of ORNT1 Detected in a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Child by Clinical Whole-Exome Sequencing [0.03%]
临床外显子组测序鉴定到一例HHH综合征患儿新的ORNT1基因突变
Wison Laochareonsuk,Seksit Osatakul,Utcharee Intusoma et al.
Wison Laochareonsuk et al.
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, an inborn error of metabolism, is an inherited syndrome caused by loss-of-function mutations in the SLC25A15, resulting in ornithine translocase1 (ORNT1) deficiency. Disrupt...
Erratum: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1 [0.03%]
Correction: 一例 COL2A1 基因突变的严重 Algerian 型脊柱元骨发育不良病例
Francisco Cammarata-Scalisi,Uta Matysiak,Colin E Willoughby et al.
Francisco Cammarata-Scalisi et al.
[This corrects the article DOI: 10.1055/s-0041-1732474.]. Thieme. All rights reserved.
Published Erratum
Journal of pediatric genetics. 2024 Jul 9;12(4):e1. DOI:10.1055/s-0044-1788343 2024
Osman Demirhan,Özlem Hergüner,Erdal Tunç
Osman Demirhan
Global developmental delay (GDD)/intellectual disability (ID) is common in children and its etiology is unknown in many cases. Chromosomal abnormalities are predominant genetic causes of GDD/ID. The aim of this study is to determine the gen...
Irina Geiculescu,Matthew A Saxonhouse,Laurie Demmer et al.
Irina Geiculescu et al.
Matthew-Wood syndrome represents a rare genetic disorder characterized by diaphragmatic defects, pulmonary hypoplasia, micro- or anophthalmia, and cardiac defects. Most cases are lethal with very few infants living beyond a few years of lif...
A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey [0.03%]
土耳其一例带有肺动脉瓣缺如综合征的托恩斯-布罗克斯综合征基因型病例报告
Ozkan Ilhan,Evren Gumus,Nilay Hakan et al.
Ozkan Ilhan et al.
Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairm...
Layla Almarzooqi,Esther Schmidt,Heinrich Schmidt et al.
Layla Almarzooqi et al.
Turner's syndrome (TS) is a sex chromosome disorder caused by a partial loss, complete absence or structural abnormality of one X chromosome in females. Special ocular features are often found. Some of the abnormalities are only cosmetic, s...
SWI/SNF-Related SMARCA2 Gene Mutation Associated with Nicolaides-Baraitser's Syndrome: Follow-up Study [0.03%]
与Nicolaides-Baraitser综合征相关的SWI/SNF相关SMARCA2基因突变的随访研究
Radharamadevi Akella
Radharamadevi Akella
Nicolaides-Baraitser's syndrome is a rare, dominantly inherited well-delineated syndrome caused by mutations in the SMARCA2 gene which is located on the small arm of chromosome 9. In this study, a de novo missense variant, which was identif...
Ghadah Gosadi,Maryam Busehail,Zuhair Rahbeeni
Ghadah Gosadi
Alstrom's syndrome (AS) is an autosomal recessively inherited multisystemic disorder that falls under the umbrella of ciliopathy. It is characterized by poor vision, hearing impairment, cardiomyopathy, childhood obesity, diabetes mellitus t...
Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type [0.03%]
TRPV4骨软骨发育不良继发性压迫性脊髓病：Kozlowski型侏儒-指（趾）-垂腕综合征
Vykuntaraju K Gowda,Varunvenkat M Srinivasan,Varsha M Reddy et al.
Vykuntaraju K Gowda et al.
Transient receptor potential vanilloid 4 channel ( TRPV4 ) gene mutations have been described in skeletal system and peripheral nervous system pathology. The case described here is a 9-year-old male child patient, born to a nonconsanguineou...
Case Studies of Two Classical Imprinting Growth Disorders: Silver-Russell and Beckwith-Wiedemann Syndromes [0.03%]
两个经典的印记生长障碍病例研究：Silver-Russell和Beckwith-Wiedemann综合征
Parminder Kaur,Chakshu Chaudhry,Anupriya Kaur et al.
Parminder Kaur et al.
The genetic influences on human growth are being increasingly deciphered. Silver-Russell and Beckwith-Wiedemann syndromes (SRS; BWS) are two relatively common genetic syndromes with under- and overgrowth-related issues being the reason for ...