Results 91 to 100 of about 436,684 (219)
Clinical Genetics, EarlyView.A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic +3 more
wiley +1 more source
The Constellation of Centronuclear Myopathy and Craniofacial Dysmorphism
, 2021 : A 20 years old third-year MBBS female student from Dow Medical College in 2008 presented to the Neurology Dept. in Karachi with a short history of rapidly worsening bilateral lower limb weakness for 6 months. There was facial dysmorphism.
Hafeez, Mahnoor
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Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
Warkany Syndrome: A Rare Case Report
Case Reports in Pediatrics, 2011 Warkany syndrome 2 or Trisomy 8 mosaicism (T8M) is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal individual to severe malformation syndrome and because of this variability, this ...
Amit Agrawal, Rashmi Agrawal
doaj +1 more source
Clinical Genetics, EarlyView.FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley +1 more source
Heat Stress Triggers Nuclear Invagination and Spatial Compartmentalization of Protein Metabolism
Cell Proliferation, EarlyView.Cells adapt heat stress to shape a nuclear invagination region function as “protein metabolism hotspots”, where both protein production and degradation are enhanced. ABSTRACT Heat stress is a common challenge for cells, causing multiple types of cellular damage while triggering complex stress responses, including the highly conserved mechanism known as
Zhi‐Hao Zhang +11 more
wiley +1 more source
Möbius syndrome associated with acyanotic congenital heart disease in a neonate
Journal of Mahatma Gandhi Institute of Medical Sciences, 2014 The Möbius syndrome is rare and the cause is still unclear. We present here a case of a newborn baby with the Möbius syndrome, showing unilateral facial nerve palsy with asymmetrical facial expression, poor sucking, dysphagia, and ear abnormality. Though
Amar Taksande
doaj +1 more source
Journal of Cutaneous Pathology, EarlyView.ABSTRACT Endocrine mucin‐producing sweat gland carcinoma (EMPSGC) is an adnexal neoplasm which typically occurs on periorbital skin and demonstrates overlapping histopathologic features with primary mucinous carcinoma of the skin (MCS). Herein, we report a patient who developed five distinct lesions of EMPSGC and MCS over an eight‐year period, some of ...
Ikuko Hirai +5 more
wiley +1 more source
Molecular Cytogenetics, 2018 Background Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features.
A. M. Mohamed +9 more
doaj +1 more source
Facial dysmorphism and perceived similarity between faces
, 2009 Facial dysmorphism and perceived similarity between faces HILL, H., JIMENEZ GOMEZ, N. (University of Wollongong), SHAWEESH, A. (Jordan University of Science and Technology), BANKIER, A.
Shaweesh, N. +5 more
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