Add to ORKGdysplasia and ichthyosis are likely laminopathies and not due to 3b-hydroxysterol D14-reductase deficienc
Although several abnormalities of lipid metabolism have been associated with abnormal cornification ...
In the last 5 years, an impressive series of genetic diseases (16 distinct diseased phenotypes have ...
The nature of the wild-type gene product at the mouse ichthyosis (ic) locus has been of great intere...
Mutations of the lamin B receptor (LBR) have been shown to cause HEM dysplasia in humans and ichthyo...
Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal rec...
Hydrops-ectopic calcification-"moth-eaten" ( HEM) or Greenberg skeletal dysplasia is an autosomal re...
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal rec...
International audienceThe nuclear envelopathies, more frequently known as laminopathies are a rapidl...
Hydrops-ectopic calcification-“moth-eaten ” (HEM) or Greenberg skeletal dysplasia is an autosomal re...
Type article Title Autosomal recessive HEM/greenberg skeletal dysplasia is caused by 3 beta-hydroxys...
Lamin A/C is a major constituent of the nuclear lamina implicated in a number of genetic diseases, c...
Mutations in genes encoding the intermediate filament nuclear lamins and associated proteins cause a...
A 32-year-old male patient presented the clinical picture of loin pain haematuria syndrome with pain...
AbstractIchthyosis is a genetically and phenotypically heterogeneous disease that can be isolated an...
), which causes a sparse coat and small external ears in heterozygotes and lethality in homozygotes ...
Although several abnormalities of lipid metabolism have been associated with abnormal cornification ...
In the last 5 years, an impressive series of genetic diseases (16 distinct diseased phenotypes have ...
The nature of the wild-type gene product at the mouse ichthyosis (ic) locus has been of great intere...
Mutations of the lamin B receptor (LBR) have been shown to cause HEM dysplasia in humans and ichthyo...
Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal rec...
Hydrops-ectopic calcification-"moth-eaten" ( HEM) or Greenberg skeletal dysplasia is an autosomal re...
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal rec...
International audienceThe nuclear envelopathies, more frequently known as laminopathies are a rapidl...
Hydrops-ectopic calcification-“moth-eaten ” (HEM) or Greenberg skeletal dysplasia is an autosomal re...
Type article Title Autosomal recessive HEM/greenberg skeletal dysplasia is caused by 3 beta-hydroxys...
Lamin A/C is a major constituent of the nuclear lamina implicated in a number of genetic diseases, c...
Mutations in genes encoding the intermediate filament nuclear lamins and associated proteins cause a...
A 32-year-old male patient presented the clinical picture of loin pain haematuria syndrome with pain...
AbstractIchthyosis is a genetically and phenotypically heterogeneous disease that can be isolated an...
), which causes a sparse coat and small external ears in heterozygotes and lethality in homozygotes ...
Although several abnormalities of lipid metabolism have been associated with abnormal cornification ...
In the last 5 years, an impressive series of genetic diseases (16 distinct diseased phenotypes have ...
The nature of the wild-type gene product at the mouse ichthyosis (ic) locus has been of great intere...