Disease: Hypoparathyroidism short stature mental retardation
- 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
- A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report
- A patient of short stature with idiopathic hypoparathyroidism round face and metacarpal signs
- A pseudohypoparathyroidism type Ia patient with normocalcemia
- A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2
- Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome
- Albright's hereditary osteodystrophy. 3 cases of type II
- Anesthesia management for the child with Sanjad-Sakati syndrome
- Arabian variant of Kenny syndrome: a familial case in Tunisia
- Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion
- Candidiasis-endocrinopathy syndrome with progressive myopathy
- Case report: Sanjad--Sakati syndrome: dental findings and treatment
- Chromosome 22q11 deletions in patients with conotruncal heart defects
- Congenital hypoparathyroidism, associated in this case with mental retardation, seizure disorder, and short stature
- Congenital NAD Deficiency Disorder
- Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes
- Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome
- Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review
- Familial association of pseudohypoparathyroidism and psoriasis: case report
- Growth hormone deficiency associated with 22q11.2 deletion: a case report
- Kenny-Caffey syndrome and its related syndromes
- Kenny-Caffey syndrome: an Arab variant?
- Megalencephaly in children. Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly
- Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome
- Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum
- Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report
- Phenotypic discordance in monozygotic twins with 22q11.2 deletion
- Progressive ataxia, retinal degeneration, neuromyopathy, and mental subnormality in a patient with true hypoparathyroidism, dwarfism, malabsorption, and cholelithiasis
- Pseudohypoparathyroidism or hypoparathyroidism? A misleading clinical presentation
- Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait
- Second instance of co-occurring 22q11.2 deletion syndrome and Williams syndrome
- Short stature, mental retardation, and hypoparathyroidism: a new syndrome
- The dentofacial features of Sanjad-Sakati syndrome: a case report
- The otolaryngologic features of Sanjad-Sakati syndrome
- Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence
- Variants in <em>KMT2A</em> in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome