We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunological aspects. The literature on CHH is reviewed and symptoms in 63 non-Amish cases are summarized.In this autosomal recessive disorder the immunodeficiency, hair abnormalities, and severity of skeletal involvement show extremely variable expressivity, between and within families. Two of the 3 sib-pairs among our cases demonstrate the great difference in expression within one family. At adult age roentgenological abnormalities can be very mild, or even absent. An impairment in cell-mediated immunity is present in all of our cases and seems a consistent manifestation in CHH; however, sometimes it is very subtle and without clinical symptoms.</p
Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplas...
Item does not contain fulltextCartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder...
Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this stud...
We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunologic...
Six cases of cartilage hair hypoplasia from five kindreds are described. They demonstrate variation ...
Review on Cartilage-hair hypoplasia (CHH), with data on clinics, and the genes involved
Purpose Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by shor...
Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of c...
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disease caused by mutations in the RMR...
Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of c...
Background: Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia, including disproportionate s...
We describe a case of semi-lethal chondrodysplasia with skeletal manifestations, detectable at birth...
A porc-haj hypoplasia ritka, autoszomális recesszív öröklődésmenetű primer immunhiány-betegség, amel...
Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder caused by pathogenic var...
Introduction: Brief overview of Bone Development Disorders of the Skeleton Cartilage-Hair-Hypoplasia...
Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplas...
Item does not contain fulltextCartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder...
Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this stud...
We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunologic...
Six cases of cartilage hair hypoplasia from five kindreds are described. They demonstrate variation ...
Review on Cartilage-hair hypoplasia (CHH), with data on clinics, and the genes involved
Purpose Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by shor...
Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of c...
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disease caused by mutations in the RMR...
Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of c...
Background: Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia, including disproportionate s...
We describe a case of semi-lethal chondrodysplasia with skeletal manifestations, detectable at birth...
A porc-haj hypoplasia ritka, autoszomális recesszív öröklődésmenetű primer immunhiány-betegség, amel...
Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder caused by pathogenic var...
Introduction: Brief overview of Bone Development Disorders of the Skeleton Cartilage-Hair-Hypoplasia...
Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplas...
Item does not contain fulltextCartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder...
Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this stud...