Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation [0.03%]
Myhre综合征的皮肤表现回顾、病理分析及基因型表型相关性研究
Setu Mittal,Emma F Johnson,Lisa A Schimmenti et al.
Setu Mittal et al.
Myhre syndrome is a rare multisystem disorder characterized by distinctive facial features, hearing loss, and progressive fibrosis affecting the skin, joints, lungs, and cardiovascular system. It is caused by heterozygous pathogenic variant...
Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation [0.03%]
解开Myhre综合征机制谱系：SMAD4信号干扰、骨骼表型和转化创新
Min Zhu,Fanyuan Zeng,Chu Zhu
Min Zhu
Myhre syndrome (MYHRS) is an ultra-rare, progressive multisystem disorder caused by recurrent heterozygous missense variants in the SMAD4 gene, a central mediator of TGF-β and BMP signaling. Skeletal abnormalities-including postnatal short...
CURE ID: A Platform to Collect Real-World Treatment Data for Drug Repurposing in Rare Genetic Disorders [0.03%]
CURE ID：一个收集罕见遗传病药物再利用的真实世界治疗数据的平台
Tahsin Farid,Maura R Z Ruzhnikov,Mili Duggal et al.
Tahsin Farid et al.
Rare diseases collectively affect millions of Americans, but less than 5% have approved treatments, and new drug development remains limited. For such diseases, drug repurposing may be an effective strategy to find new treatment options. In...
Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies [0.03%]
中枢神经系统异常胎儿的RNU4-2变异的产前评估
Yiyao Chen,Li Gao,Xu Han et al.
Yiyao Chen et al.
Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4-2, a non-coding gene encoding the U4 s...
Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review [0.03%]
肌动蛋白结合蛋白突变的常染色体显性遗传重构迈尔综合征的生殖咨询-新型家系及文献综述
Maggie R Brand,Eva Vanbelleghem,Alison C Kay et al.
Maggie R Brand et al.
Myhre syndrome is a rare disorder that typically results from a de novo SMAD4 variant. De novo SMAD4 variants have recently been shown to be associated with 'selfish selection' in the male germline, explaining their exclusive paternal origi...
Margaret P Adam
Margaret P Adam
Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology [0.03%]
两项详细尸检揭示了MYHRE综合征中SMAD4功能增强的病理生理特征
Katelyn Dannheim,Grant Eilers,Nathan C Page et al.
Katelyn Dannheim et al.
Pathologic studies of Myhre syndrome (OMIM 139201) have provided modest insights into this ultra-rare multisystem disorder, with postmortem examinations being scarce. Morbidity is related to severe congenital heart defects, aortic hypoplasi...
Whitney Eng
Whitney Eng
Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis ...
Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment [0.03%]
MYHRE 综合征女性患者中下面部评估：客观方法补充主观评价
Mohammad Mousavian,Maggie Brand,Angela E Lin et al.
Mohammad Mousavian et al.
Myhre syndrome is associated with a recognizable pattern of facial differences that develop after early childhood. Patients typically have midface hypoplasia, mandibular prognathism, narrow oral commissures with a short philtrum and thin up...
Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self-Reported Data [0.03%]
Myhre综合征基金会注册表的描述性流行病学：自报数据的价值
Mary K Young,Armelle Pindon,Maggie R Brand et al.
Mary K Young et al.
Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing los...