Kenny-Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference12 articles.
1. Kenny syndrome: description of additional abnormalities and molecular studies
2. Ocular Findings in Kenny's Syndrome
3. CONGENITAL STENOSIS OF MEDULLARY SPACES IN TUBULAR BONES AND CALVARIA IN TWO PROPORTIONATE DWARFS—MOTHER AND SON; COUPLED WITH TRANSITORY HYPOCALCEMIC TETANY
4. Kenny syndrome: Evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one
5. Medullary Stenosis of the Tubular Bones Associated with Hypocalcemic Convulsions and Short Stature
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1. Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2;Molecular Syndromology;2024-08-22
2. Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2);Molecular Genetics & Genomic Medicine;2024-04
3. Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features;Genes;2022-01-28
4. Parathyroid hormone;Advances in Clinical Chemistry;2021
5. Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2;Journal of Pediatric Genetics;2020-01-06
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