Feng Zhu,Yu Zhang,Kaixuan Wang et al.
Feng Zhu et al.
Chitayat syndrome (CHYTS) is an autosomal dominant disorder caused by variants in the ETS2 repressor factor (ERF) gene, located on 19q13.2. This gene encodes the ERF protein. The syndrome is extremely rare, with only 13 patients reported to...
A fetal case of Stüve-Wiedemann syndrome due to a novel homozygous truncating variant in IL6ST [0.03%]
IL6ST截短变异所致的新生儿Stüve-Wiedemann综合征病例报告
Dominique Braun,Sofia Amylidi-Mohr,Olaf Ahrens et al.
Dominique Braun et al.
Stüve-Wiedemann syndrome is a rare skeletal dysplasia characterized by severe shortening and bowing of the long bones and by immunological and autonomous dysfunction, usually resulting in early death. Bi-allelic loss-of-function variants i...
Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant [0.03%]
SOS1新发变异合并镜像综合征及胎盘异位型肝病变
Yuya Tanaka,Satoru Ikenoue,Akihisa Ueno et al.
Yuya Tanaka et al.
Mirror syndrome is a rare obstetric condition characterized by maternal fluid retention mirroring fetal hydrops. Placental ectopic liver tissue is an extremely rare non-trophoblastic placental tumor, potentially arising from aberrant hepato...
Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study [0.03%]
克利夫斯马综合征患者的父母经历及需求调查：半结构化访谈研究
Sietske A L van Till,Arianne Bouman,Tjitske Kleefstra et al.
Sietske A L van Till et al.
Kleefstra Syndrome (KLEFS1) is a monogenic neurodevelopmental disorder characterized by developmental delays, somatic issues, and (neuro)psychiatric symptoms. Individuals with KLEFS1 often require complex, ongoing support, which significant...
Autosomal recessive frameshift variant broadens HECW2-related disease spectrum [0.03%]
HECW2相关疾病的新的遗传变异所致的隐形遗传病谱系广泛性病症突变
Reyhaneh Dehghanzad,Yeganeh Eshaghkhani,Mohammad Saberi et al.
Reyhaneh Dehghanzad et al.
The HECW2 gene encodes a HECT (homologous to E6-AP carboxy terminus)-type E3 ubiquitin ligase that plays a critical role in neurodevelopment. Pathogenic variants in HECW2 are associated with a neurodevelopmental disorder characterized by hy...
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report [0.03%]
五例未相关血管型埃勒斯-丹洛斯综合征患儿的血管病变报告
Anna Irene Skei Sekkelsten,Thor Håkon Skattør,Henrik Holmstrøm et al.
Anna Irene Skei Sekkelsten et al.
Vascular Ehlers-Danlos syndrome (vEDS) is an inherited connective tissue disorder caused by heterozygous variants in COL3A1, leading to tissue and vessel fragility alongside an increased risk of potentially fatal aneurysms and dissections. ...
Fabre A,Aouchiche K,Reynaud R
Fabre A
An often overlooked problem in the characterization of rare diseases is the contingent and evolving nature of accepted phenotypes. In the era of next-generation sequencing and genotype-first approaches to patient care, we illustrate the pit...
Parkinsonism and Charcot-Marie-Tooth neuropathy type 2P in a French patient with LRSAM1 pathogenic variation [0.03%]
LRSAM1病理性变异的法国帕金森氏症和Charcot-Marie-Tooth型2P神经病患者的一项研究
Pauline Ducatel,Antoine Verger,Marion Selton et al.
Pauline Ducatel et al.
LRSAM1 pathogenic variations are linked to an axonal motor and sensory polyneuropathy known as Charcot-Marie-Tooth disease type 2P, but extra peripheral neurologic impairment is suspected. We report a patient with CMT2P and parkinsonism. We...
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders [0.03%]
儿童临床全外显子测序诊断神经发育障碍的阳性率研究(868 例报告)
Sebastian Neuens,Julie Soblet,Aurelie Penninckx et al.
Sebastian Neuens et al.
Next generation sequencing has revolutionized the diagnostic approach for patients with neurodevelopmental disorders (NDDs), yields are however highly variable depending on the patient's phenotype. It is often challenging to predict which i...
Uniparental isodisomy of chromosome 1 involving NPHS2 in steroid-resistant nephrotic syndrome with renal failure [0.03%]
染色体1单亲二倍体型涉及NPHS2基因引起的糖皮质激素抵抗性肾病综合征伴发肾衰竭病例报告
S Magliulo,M L Genovesi,L Lucchetti et al.
S Magliulo et al.
Steroid-resistant nephrotic syndrome is a rare condition defined by early severe proteinuria associated with hypoalbuminemia, hyperlipidemia and possible edema, is usually caused by pathogenic variants in genes affecting the establishment a...