Epileptic seizures and EEG Findings in 3p deletion syndrome involving SLC6A1 [0.03%]
3号染色体短臂缺失综合征伴SLC6A1基因异常的癫痫发作及脑电图表现
Saori Oguri,Masanori Inoue,Osamu Kobayashi et al.
Saori Oguri et al.
3p Deletion syndrome is a rare genetic disorder characterized by intellectual disability, growth delay, hypotonia, and distinctive facial features, with considerable phenotypic variability. Previous reports have highlighted the significance...
A Novel RORA Genetic Variant Associated with Early-Onset Obesity and Insomnia [0.03%]
与早发性肥胖和失眠相关的新RORA基因变异体
Alexie Ouellette,Eric P Allain,Abdullah Almaghraby et al.
Alexie Ouellette et al.
Retinoic acid-related orphan receptor alpha (RORA) pathogenic variants cause intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA). Herein, we present a female patient with a novel heterozygous likely pa...
Clinical variability in individuals with ATR-X syndrome in the Netherlands [0.03%]
荷兰ATR-X综合征患者的临床变异
Anne Noordhuis-Zijderveld,Dederieke A M Festen,Arooj Kharl et al.
Anne Noordhuis-Zijderveld et al.
Background: The Alpha Thalassemia mental Retardation syndrome, X-linked (ATR-X syndrome, MIM: 301040 ) is a rare genetic disorder characterized by alpha thalassemia, intellectual disability, peculier facial characteristic...
Parental Communication About Inherited Conditions With Young Children: Insights from Genetic Professionals in Portugal [0.03%]
葡萄牙遗传专业人士关于遗传病与儿童沟通的见解
Catarina Seidi,Liliana Sousa,Álvaro Mendes
Catarina Seidi
Genetic healthcare professionals (GHP) are key in supporting parents in communicating about inherited genetic conditions (IGC) with their young children. This study explored the attitudes, clinical practice and perceptions of Portuguese GHP...
Novel STAG2 variant expands Mullegama-Klein-Martinez Syndrome phenotype [0.03%]
新型STAG2变异扩展了Mullegama-Klein-Martinez综合征表型
Cormac Duff,Samy Allawendy,Andrew J Green et al.
Cormac Duff et al.
We present a novel case of a female patient with a de novo heterozygous splice site pathogenic variant STAG2 (NM_001042749.3):c.1196+4_1196+7del. The STAG2 gene encodes "Stromal Antigen 2" (STAG2), a fundamental subunit of the cohesin compl...
Partial 3q tetrasomy: Defining the syndrome, neocentromeres, and an additional case report [0.03%]
部分三体3q：定义综合征、新着丝点和一个额外病例报告
Mads E Hauberg,Aia E Jønch,Christina R Fagerberg
Mads E Hauberg
Partial 3q tetrasomy is an ultra-rare genetic condition, with a phenotype that has hitherto not been comprehensively reviewed. In this paper we report the 18th case and re-evaluate those previously published. The present case presented with...
Wolcott-Rallison Syndrome - crosstalk between PERK- EIF2A and type II interferon signaling [0.03%]
沃尔科特-拉利森综合征-PERK-EIF2A与II型干扰素信号转导的相互作用
Megha Konduri,Devin Boe,Nada Yazigi et al.
Megha Konduri et al.
Immune activation is not reported in children with Wolcott-Rallison syndrome (WRS). We observed a pattern of immune activation pre-transplant in three children with WRS that was consistent with increased interferon-γ (IFN-γ) and its regul...
Ninna Bager Rasmussen,Pernille Axél Gregersen,Trine Østergaard Nielsen et al.
Ninna Bager Rasmussen et al.
Pathogenic variants in KAT6B (Lysine acetyltransferase 6B) are associated with two clinically overlapping autosomal dominant disorders Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (OMIM 603736), and Genitopatellar syndrome (GPS) (OM...
Hexasomy of the 15q11q13 region: a detailed report and review of the literature [0.03%]
15q11-q13六倍体的详细报道及文献综述
Charissa Y Z Chan,Emma K Baker,David Francis et al.
Charissa Y Z Chan et al.
Hexasomy of the Prader-Willi/Angelman Syndrome Critical Region (PWASCR; chromosome 15q11-q13) is very rare with only 13 patients being described to date. The region is known for its high susceptibility to genomic rearrangements, and extra c...
Daisuke Nakato,Naoya Morisada,Sota Iwatani et al.
Daisuke Nakato et al.
Recurrent somatic mosaic pathogenic variants of RHOA have been observed in a newly identified neuroectodermal syndrome, Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies, Somatic Mosaic [EDFAOB]. All 12 pre...