Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome [0.03%]
新生儿表现形式在Haberland综合症早期诊断中的作用
Morgan R Sturgis,Kathryn E Wrobel,Gianna N Bosco et al.
Morgan R Sturgis et al.
Haberland syndrome or encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital syndrome characterized by lipomas and noncancerous tumors of the scalp, skin, and eyes, in addition to intellectual disability, early onset seizures, an...
A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl [0.03%]
导致两岁女孩散发性X连锁低磷血症性佝偻病的全新马赛克PHEX变异
Kok-Siong Poon,Karen Mei-Ling Tan,Margaret Zacharin et al.
Kok-Siong Poon et al.
Pathogenic variants in the PHEX gene are causative of X-linked hypophosphatemic rickets (XLH). We present a case of a 2-year-old girl with hypophosphatemic rickets with genu varum and short stature without any family history of XLH. Next ge...
Marisol Ibarra-Ramírez,Luis Daniel Campos-Acevedo,Laura E Martínez de Villarreal
Marisol Ibarra-Ramírez
Turner syndrome (TS) is caused by the total or partial loss of the second sex chromosome; it occurs in 1 every 2,500-3,000 live births. The clinical phenotype is highly variable and includes short stature and gonadal dysgenesis. In 1959, th...
A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome [0.03%]
MN1基因新致病突变一例：小脑发育畸形伴颅面异常，拓展MN1蛋白C端截短综合征临床表型
Carmen Palma Milla,Pérez Mohand Patricia,José M Lezana et al.
Carmen Palma Milla et al.
Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the MN1 gene have been linked ...
Mark Lubinsky
Mark Lubinsky
"Obvious" recessive inheritance of Tay-Sachs disease (TSD; OMIM # 272800) took over half a century to be established. Points now taken for granted were problematic, that: (1) TSD is a biological entity, not an artificial selection of concur...
Neu-Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review [0.03%]
新生儿Neu-Laxova综合征1例及文献复习
Ravi Kapoor,Seema Thakur,Aakar Kapoor et al.
Ravi Kapoor et al.
Neu-Laxova's syndrome (NLS) is a rare group of congenital malformations comprising intrauterine growth retardation (IUGR), central nervous system malformations, microcephaly, facial anomalies, ichthyosis, generalized edema, limb abnormaliti...
X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy [0.03%]
一种新的突变扩展了表型异质性肌病的基因型谱系:X连锁型胎甲球蛋白蓄积症
Andreia Carvalho,Carmen Costa,Miguel Pinto et al.
Andreia Carvalho et al.
X-linked myotubular myopathy (XLMTM), a centronuclear congenital myopathy secondary to pathogenic variants in the MTM1 gene encoding myotubularin, is typically recognized for its classic and severe phenotype which includes neonatal hypotoni...
Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis [0.03%]
原发性纤毛运动障碍中的新型致病DNAH5变异及其与内脏异位和新生儿胆汁淤积的关联
Hong T Lin,Anita Gupta,Kevin E Bove et al.
Hong T Lin et al.
The dynein axonemal heavy chain 5 gene codes for a subunit of axonemal dynein necessary for ciliary motor function. Though research has elucidated the consequences of some variants in this gene, it is still unclear whether many variants in ...
Sevinc Odabasi Gunes,Erhan Calisici,Mutluay Arslan et al.
Sevinc Odabasi Gunes et al.
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes, usually occurring in the first 6 months of life. Here, we present a newborn, which was admitted with epileptic seizure on the postnatal second day of life. Sepsis and meningi...
First Clinical Report of Two RAB3GAP1 Pathogenic Variant in Warburg Micro Syndrome [0.03%]
首个Warburg微综合征RAB3GAP1致病突变的临床报道
Nejmiye Akkuş,Tuğba Akın Duman
Nejmiye Akkuş
Warburg micro (WARBM) syndrome is an autosomal recessive disease characterized by severe brain and eye abnormalities. Loss-of-function mutations in RAB18, RAB3GAP2, RAB3GAP1, or TBC1D20 can lead to this disease. Here, we present two unrelat...