GAPO syndrome: a comprehensive examination and review of 105 clinical cases [0.03%]
GAPO综合征的全面分析及105例临床复习
Clarissa Modafferi,Pino D&#x;Ambrosio,Silvia Andaloro et al.
Clarissa Modafferi et al.
Growth retardation, alopecia, pseudoanodontia and optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the ANTXR1 gene. While significant progress has been made in understanding its...
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder [0.03%]
威廉姆斯综合征染色体区域的GTF2I杂合子改变会导致神经发育异常
Jeanne Jury,Thomas Besnard,Wallid Deb et al.
Jeanne Jury et al.
Purpose: Williams-Beuren syndrome (WBS) is a well-known neurodevelopmental disorder caused by a copy-number loss at the 7q11.23 locus. Although the 1.5-1.8 Mb recurrent deletion carries several genes of interest, no singl...
Six at Sixty. 'No gain, no pain': medical genetics taking Nav1.7 from target to pharmacy [0.03%]
六十六岁看人生：医学遗传学中Nav1.7从靶点到药物的发展之路：“没有付出就没有收获”
Pu Xia,Ran Mo,Linghan Hu et al.
Pu Xia et al.
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement [0.03%]
RNU4ATAC变异体导致具有骨骼异常的焦博特综合征的进一步证据
Fulvio D&#x;Abrusco,Simone Gana,Enrico Alfei et al.
Fulvio D&#x;Abrusco et al.
RNU4ATAC is a non-coding gene involved in the minor spliceosome, and is mutated in a spectrum of syndromic skeletal disorders with recessive inheritance. Recently, biallelic RNU4ATAC pathogenic variants were detected in five patients presen...
Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with parkinsonism [0.03%]
N651D GRIA3复合功能后果：一名发育性和癫痫性脑病伴帕金森综合征患者的病例报告
Carmen Fons,Yu-Han Ge,Laura Kristine Rasmussen et al.
Carmen Fons et al.
Rare variants in GRIA3, the gene encoding the GluA3 subunit of amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors (AMPARs), are associated with defects in early brain development. Disease-causing variants are...
Inefficiencies in precision medicine: can genetic counsellors (GC) be the solution? The experience from the first GC-led cancer genetics service in Asia [0.03%]
精准医疗中的低效率问题：遗传咨询师（GC）能否成为解决方案？亚洲首个GC主导的癌症遗传学服务的经验教训
Jeanette Yuen,Shao-Tzu Li,Eliza Kate Courtney et al.
Jeanette Yuen et al.
Purpose: The utility of genetic testing (GT) to guide cancer treatment, risk management and prevention has driven the demand for cancer genetic services. The global shortage of genetic counsellors (GCs) has led to the mai...
Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genes [0.03%]
涉及TP53和FLCN基因的多靶位遗传性肿瘤综合征中多个早期发作的非典型皮肤纤维组织细胞瘤
Schaida Schirwani,Sylvia Ghattas,Nicholas Wilson et al.
Schaida Schirwani et al.
Li-Fraumeni syndrome and Birt-Hogg-Dubé syndrome are distinct cancer predisposition syndromes caused by germline pathogenic variants (GPVs) in TP53 and FLCN, respectively. Multilocus inherited neoplasia alleles syndrome (MINAS) describes t...
Staci Kallish,Antonia Camporeale,Robert J Hopkin et al.
Staci Kallish et al.
Background: Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to GLA variants. Females with Fabry disease often experience diagnostic delays and an und...
APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites [0.03%]
APC I1307K与临床管理：来自英国生物样本库的结直肠癌及其他癌症风险的病例对照分析中的见解（阿什肯纳齐犹太人和非阿什肯纳齐白人）
Sophie Allen,Charlie F Rowlands,Andrew Latchford et al.
Sophie Allen et al.
Background: APC c.3920T>A; p.Ile1307Lys (I1307K), prevalent in individuals of Ashkenazi Jewish (AJ) origin, has been associated with a modestly increased colorectal cancer (CRC) risk. Clinical recommendations for I1307K h...
Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists [0.03%]
加拿大医学遗传学院关于遗传病生殖携带者筛查立场的声明
Ritu B Aul,Karen Elizabeth Canales,Isabelle De Bie et al.
Ritu B Aul et al.
Purpose and scope: The aim of this position statement is to provide recommendations aimed at Canadian reproductive care clinicians and genetics professionals regarding the use of reproductive carrier screening for autosom...