Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome [0.03%]
诺恩综合征患者的分子病因被鉴定为非RASopathies遗传综合症
Gabriela Jeesoo Kim,Alexsandra Christianne Malaquias,Debora Romeo Bertola et al.
Gabriela Jeesoo Kim et al.
Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and ...
Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome [0.03%]
Simpson-Golabi-Behmel 综合征新型 GPC3 错义突变的功能表征
Teresa Zhao,Kirsten Allan,Juliet Taylor et al.
Teresa Zhao et al.
Simpson-Golabi-Behmel syndrome 1 (SGBS1) is a rare X-linked recessive condition characterized by overgrowth and multiple congenital anomalies. SGBS1 is caused by damaging variants in the Glypican-3 (GPC3) gene. The GPC3 protein plays a cruc...
Julie Hoover-Fong,John McGready,Leah Fleming et al.
Julie Hoover-Fong et al.
Smith-Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid-1 (RAI1) gene either by a pathogenic sequen...
Stephanie L Santoro,Dominica Nichols,Mary Witt et al.
Stephanie L Santoro et al.
Given the increased prevalence of overweight and obesity in Down syndrome (DS) and known barriers to exercise and physical activity, we surveyed caregivers on these topics in a health survey. We aimed to explore how different daily activiti...
Complex Wounds in Ectodermal Dysplasias: Translating Discovery to Therapy [0.03%]
外胚叶发育不全的复杂伤口：从发现到治疗
Mary Fete,Becky M Abbott,Maddison N Salois et al.
Mary Fete et al.
The "Complex Wounds in Ectodermal Dysplasias: Translating Discovery to Therapy" conference aimed to accelerate the development of novel treatments for complex wounds in ectodermal dysplasias. The conference brought together leading experts ...
Prevalence of Dysautonomic Symptoms in CHARGE Syndrome: A Pilot Study of 25 Individuals With CHARGE Syndrome [0.03%]
CHARGE综合症患者自主神经症状患病率的试点研究
Kim Blake,Julia Morrison,Laura Burge et al.
Kim Blake et al.
CHARGE syndrome is a heterogeneous genetic disorder with an evolving phenotype, particularly in adults. This study examined whether dysautonomic symptoms are common in adolescents and adults with CHARGE syndrome. Adolescents and adults with...
New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri-Weill Dyschondrosteosis [0.03%]
勒-韦尔迪斯坦德综合征患者SHOX基因DNA甲基化模式改变的新见解
Valeriia Kopytko,Katerina Hirschfeldova,Pavlina Capkova et al.
Valeriia Kopytko et al.
SHOX gene haploinsufficiency is associated with Léri-Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulator...
A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss [0.03%]
LMX1A的新错义变异导致常染色体显性非综合征听力损失
Ryan Chen,Dayna Morel Swols,Guney Bademci et al.
Ryan Chen et al.
Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a ...
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder [0.03%]
杂合ZFX错义变异导致的X连锁神经发育障碍症（病例报告）
Iftekhar A Showpnil,Allison Daley,Emily R Sites et al.
Iftekhar A Showpnil et al.
Germline ZFX variants are associated with an X-linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20-year-old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by ...
Monochorionic, Dizygotic, Sex Discordant Twins With Twin Anemia Polycythemia Sequence [0.03%]
同卵双胞胎中的异卵性别的双胞胎贫血多血症序列 twin anemia polycythemia sequence (TAPS)
Julie T Alan,Lauren N Meiss,Jena L Miller et al.
Julie T Alan et al.
Monochorionic twins are typically monozygotic with identical fetal sex. We present a monochorionic, diamniotic twin pair of a triplet gestation with discordant fetal sex also affected with twin anemia polycythemia sequence (TAPS). The pregn...