Remote Language Assessment in School-Age Children With Phelan-McDermid Syndrome and Genotype-Phenotype Correlation [0.03%]
学龄期Phelan McDermid综合征儿童的远程语言评估及基因表型相关性研究
Sarah Quadri-Valverde,Jessica Klusek,Linda D Ward et al.
Sarah Quadri-Valverde et al.
People with Phelan-McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and co...
Refinement of Connective Tissue Disorder Diagnosis From Marfan to Loeys-Dietz Syndrome Type 4-End of a 30-Year Diagnostic Odyssey [0.03%]
从马方综合征到勒奥斯-迪茨综合征四型——长达三十年的诊断之旅终结
Neel Kothari,Nora Shannon,Bara Erhayiem et al.
Neel Kothari et al.
Characterization of the molecular basis of connective tissue disorders causing aortopathy is important for clinical management. We report a 4-generation family with autosomal dominant inheritance of a connective tissue disorder causing aort...
Experiences With Detection of Higher-Copy Sex Chromosome Aneuploidy by cfDNA Screening: The Critical Role of Diagnostic Testing [0.03%]
基于cfDNA筛查的性染色体异常检测诊断实践及思考
Lauren A Choate,Courtney Studwell,David T Miller et al.
Lauren A Choate et al.
Noninvasive prenatal cell-free DNA (cfDNA) screening is standard of care for detecting prenatal chromosomal aneuploidies. The positive predictive value of prenatal cfDNA screening is lower for sex chromosome aneuploidies (SCAs) compared to ...
Founder Effect of the c.500G>A Variant in South Asian Patients With Inherited GPD1 Deficiency: Report on 16 Patients and Variant Review [0.03%]
南亚GPD1缺乏症患者中c.500G>A变异的奠基者效应：16例患者的报告及突变综述
Ishaq Malik,Aaqib Zaffar Banday,Abdus Sami Bhat et al.
Ishaq Malik et al.
Only a few studies describe five (or more) patients with inherited glycerol-3-phosphate dehydrogenase 1 (GPD1) deficiency, often termed transient infantile hypertriglyceridemia (HTGTI). We report 18 additional patients with HTGTI (confirmed...
Pau Castel,Lisa Schoyer,Beth Stronach et al.
Pau Castel et al.
The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen-activated protein kinase (MA...
Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2 [0.03%]
结合长读取基因组和转录组测序确定MEGF8的新变异是卡彭特综合征2型的致病原因
Kiana Rashidi,Bhavi P Modi,Phillip A Richmond et al.
Kiana Rashidi et al.
Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multipl...
Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12-Related Developmental Disorders [0.03%]
帮助诊断哈迪卡综合征及其他MED12相关发育障碍的临床和变异表型的区别性特征
Tinne Warmoeskerken,Miel Theunis,Kris Van den Bogaert et al.
Tinne Warmoeskerken et al.
The rare X-linked female-restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavio...
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome [0.03%]
SKOR2基因新突变导致小脑发育不全和智力障碍等表型拓展Valence-Farazi小脑共济失调综合征的临床谱系
Aya Abu-El-Haija,Allan Bayat,Hanifenur Mancılar et al.
Aya Abu-El-Haija et al.
The embryonic development of the cerebellum is orchestrated through a dynamic process that governs the interplay of Purkinje and granule cell populations. SKOR2 (Fussel 18) is a transcriptional co-repressor that increases SHH (sonic hedgeho...
The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy [0.03%]
新型ACTC1 p.Gly50Ser变异与不伴肥厚的HCM心律失常及次要表型相关
Thomas D Gossios,Dimitrios Ntelios,Thomas Zegkos et al.
Thomas D Gossios et al.
The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification...
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts [0.03%]
GCNT2基因双等位变异的病例报告暗示其外显子1B与先天性白内障相关
Audrey O&#x;Neill,Cindy Bayer,Emily McQuillen et al.
Audrey O&#x;Neill et al.
GCNT2-related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiat...