Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome [0.03%]
严重KAT6A（Arboleda-Tham）综合征的胎儿肝钙化
Antonella Di Caprio,Cecilia Rossi,Emma Bertucci et al.
Antonella Di Caprio et al.
Arboleda-Tham syndrome (ARTHS, MIM 616268) is a rare genetic disease, due to a pathogenic variant of Lysine (K) Acetyltransferase 6A (KAT6A) with autosomal dominant inheritance. Firstly described in 2015, ARTHS is one of the more common cau...
Genetic counselling supervision: Luxury or necessity? A qualitative study with genetic healthcare professionals in Portugal [0.03%]
遗传咨询监督：奢侈品还是必需品？对葡萄牙遗传医疗专业人员的质性研究
Lídia Guimarães,Ruxanda Baião,Catarina Costa et al.
Lídia Guimarães et al.
In recent years, there has been a significant technological evolution in the field of genetics, leading to an increase in the number of professionals working in medical genetics and, consequently, a tremendous growth in genetic counselling....
The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema [0.03%]
VASCERN PPL工作小组关于原发性和儿科淋巴水肿的诊疗路径
Nele Devoogdt,Sarah Thomis,Florence Belva et al.
Nele Devoogdt et al.
Lymphoedema is caused by an imbalance between fluid production and transport by the lymphatic system. This imbalance can be either caused by reduced transport capacity of the lymphatic system or too much fluid production and leads to swelli...
Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature [0.03%]
成人Pyknodysostosis伴病理性下颌骨折及骨坏疽一例：临床报告及文献回顾
Alice Moroni,Evelise Brizola,Alessia Di Cecco et al.
Alice Moroni et al.
Pycnodysostosis is an ultra-rare osteosclerotic skeletal disorder characterized by short stature, susceptibly to fractures, acroosteolysis of the distal phalanges, and craniofacial features (frontal bossing, prominent nose, obtuse mandibula...
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype [0.03%]
深度内含子变异导致ATP7A的异常剪接，在一个具有多变的枕骨角综合征表型的家庭中发现此变异
J Robert Harkness,Huw B Thomas,Jill E Urquhart et al.
J Robert Harkness et al.
Genetic variants in ATP7A are associated with a spectrum of X-linked disorders. In descending order of severity, these are Menkes disease, occipital horn syndrome, and X-linked distal spinal muscular atrophy. After 30 years of diagnostic in...
Claude Stoll,Beatrice Dott,Yves Alembik et al.
Claude Stoll et al.
Infants with anophthalmia and microphthalmia (an/microphthalmia) have often other associated congenital anomalies. The reported frequency and the types of these associated anomalies vary between different studies. The purpose of this invest...
LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17 [0.03%]
LRP4第3个β-胡状结构域的特异性突变引起先天性肌无力综合征17型
Tariq Al Jabry,Nadia Al-Hashmi,Basem Abdelhadi et al.
Tariq Al Jabry et al.
LRP4 is expressed in many organs. It mediates SOST-dependent inhibition of bone formation and acts as an inhibitor of WNT signaling. It is also a postsynaptic end plate cell surface receptor at the neuromuscular junction and is central to i...
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant [0.03%]
丹麦婴儿软骨发育不全和矮小症相关基因（SHOX）缺失综合征合并症病例报告
Kasper V Seiersen,Tine B Henriksen,Ted C K Andelius et al.
Kasper V Seiersen et al.
Short stature or shortening of the limbs can be the result of a variety of genetic variants. Achondroplasia is the most common cause of disproportionate short stature and is caused by pathogenic variants in the fibroblast growth factor rece...
GRM7-related disorder: five additional patients from three independent families and review of the literature [0.03%]
GRM7相关性疾病：三个独立家系的五例新患者及文献复习
Louis Januel,Nicolas Chatron,Clotilde Rivier-Ringenbach et al.
Louis Januel et al.
Developmental and epileptic encephalopathies (DEEs) refer to a group of severe epileptic syndromes characterized by seizures as well as a developmental delay which can be a consequence of the underlying etiology and/or the epileptic encepha...
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature [0.03%]
NGLY1相关先天性脱糖基化障碍进行性肌阵挛性癫痫表型的扩展：一例报告及文献复习
Yuri Sonoda,Atsushi Fujita,Michiko Torio et al.
Yuri Sonoda et al.
Introduction: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins...