Keyphrases
Clinical Characteristics
100%
Molecular Characteristics
100%
Child Follow-up
100%
Pseudohypoparathyroidism
100%
Obesity
50%
Congenital Hypothyroidism
50%
Israel
25%
Clinical Phenotype
25%
Missense mutation
25%
Moderate to Severe
25%
Intellectual Disability
25%
Delayed Diagnosis
25%
Frameshift mutation
25%
Patient Characteristics
25%
Rare Diseases
25%
Dysmorphic Features
25%
Molecular Analysis
25%
Female Adults
25%
Referral Center
25%
Follow-up Interval
25%
Short Stature
25%
Rare Genetic Disease
25%
Intact Parathyroid Hormone (iPTH)
25%
Adult Height
25%
Hypocalcemia
25%
Secondary Amenorrhea
25%
Primary Amenorrhea
25%
Albright Hereditary Osteodystrophy
25%
Hormone Resistance
25%
GNAS mutation
25%
Early-onset Obesity
25%
Biochemistry, Genetics and Molecular Biology
Missense Mutation
100%
Frameshift Mutation
100%
Genetic Disorder
100%
Body Height
100%
Parathyroid Hormone
100%
Hypocalcaemia
100%
Hormone Resistance
100%
Medicine and Dentistry
Pseudohypoparathyroidism
100%
Congenital Hypothyroidism
50%
Patient Referral
25%
Rare Disease
25%
Dysmorphic Feature
25%
Neonatal Infant
25%
Genetic Disorder
25%
Short Stature
25%
Hormone Resistance
25%
Parathyroid Hormone
25%
Missense Mutation
25%
Hypocalcaemia
25%
Primary Amenorrhea
25%
Secondary Amenorrhea
25%
Frameshift Mutation
25%
Albright's Hereditary Osteodystrophy
25%