Julia Chapin,Bekim Sadikovic,Jennifer Kerkhof et al.
Julia Chapin et al.
Over two decades ago, a primigravid female presented with concern for recurrence of an adverse phenotype affecting her three brothers. The three brothers presented with intellectual disability, developmental delay, behavior problems and dys...
Promoting Reflective Practice: Exploring Access to Supervision in European Genetic Counselling Programmes [0.03%]
促进反思实践：探究欧洲遗传咨询项目中督导的可及性
Inês Costa,Lídia Guimarães,Milena Paneque
Inês Costa
Genetic Counselling Supervision (GCS) plays an integral role in professional development, stimulating reflective practice and helping to prevent burnout. Nevertheless, evidence points to insufficient practice of GCS. This study aimed to exp...
Hepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: a case report [0.03%]
VPS53相关桥脑小脑萎缩2E型的肝表现：病例报告
Auriane Mouchez,Célia Hoebeke,Béatrice Desnous et al.
Auriane Mouchez et al.
Pathogenic variants in VPS53 are associated with pontocerebellar hypoplasia type 2E (PCH2E), characterized by microcephaly, severe neurodevelopmental impairment and epilepsy. We present a case of a female neonate with VPS53 pathogenic varia...
Gareth Baynam,Joanne Siffleet,Theresa Abbott et al.
Gareth Baynam et al.
Rare and undiagnosed diseases collectively represent a global health priority, presenting distinct challenges for healthcare systems due to their low prevalence, cumulative frequency, and complex care requirements. The impact of rare and un...
Khaled Osman,Ayman Asaly,Rana Halloun et al.
Khaled Osman et al.
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper li...
Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED) [0.03%]
先天性心脏病和外胚层发育不良（CHDED）中的脑钙化
Daisuke Watanabe,Yohei Hasebe,Hideaki Yagasaki et al.
Daisuke Watanabe et al.
Congenital Heart Defect and Ectodermal Dysplasia (CHDED) is an autosomal dominant disorder caused by the PRKD1 gene. CHDED is characterized by heart defects and ectodermal dysplasia. To date, eight patients with CHDED have been described. C...
Phenotypic variability in a family with an inherited KAT6A frameshift variant [0.03%]
KAT6A框移变异所致遗传性异常表型家族系谱分析
Sidsel Bjerg Ringsted,Sara Markholt,Lotte Andreasen et al.
Sidsel Bjerg Ringsted et al.
KAT6A syndrome or Arboleda-Tham Syndrome (ARTHS; OMIM #616268) is a syndromic neurodevelopmental disorder mainly presenting with variable degrees of intellectual disability (ID) and developmental delay (DD), especially speech delay, hypoton...
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria [0.03%]
全基因组测序发现一名巨回患者17号染色体PAFAH1B1杂合倒位突变
Jun Chen,Xiao-Ping Li,Guang-Jin Luo et al.
Jun Chen et al.
Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diag...
CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus [0.03%]
CHD3相关的Snijders-Blok-Campeau综合征伴双下肢痉挛性瘫痪、共济失调和内脏反位
Lin Chen,Yanjiao Bu,Yuwen Yu et al.
Lin Chen et al.
The Chromodomain Helicase DNA-binding (CHD) protein family is ATP-dependent chromatin remodeling proteins that utilize energy produced by ATP hydrolysis to regulate chromatin structure and thereby modulate gene expression. The earliest repo...
NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation [0.03%]
非诺综合征的相关X连锁智能障碍综合症的临床及分子特征进一步阐明
Pauline Planté-Bordeneuve,Simon Boussion,Roseline Caumes et al.
Pauline Planté-Bordeneuve et al.
The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause Intellectua...