Homozygous
Adolescent
Age of Onset
Amino Acid Substitution
Collagen Type I
/ chemistry
Collagen Type I, alpha 1 Chain
DNA Mutational Analysis
Facies
Genetic Association Studies
Genetic Predisposition to Disease
Homeodomain Proteins
/ chemistry
Homozygote
Human Growth Hormone
/ deficiency
Humans
Hypopituitarism
/ complications
Magnetic Resonance Imaging
Male
Models, Molecular
Mutation
Osteoporosis
/ diagnosis
Phenotype
Polymorphism, Single Nucleotide
Radiography
Structure-Activity Relationship
COL1A1
CPHD
E1361K
HESX1
Q6H
combined pituitary hormone deficiency
osteoporosis
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
13 Jan 2021
13 Jan 2021
Historique:
received:
22
12
2020
revised:
05
01
2021
accepted:
11
01
2021
entrez:
16
1
2021
pubmed:
17
1
2021
medline:
10
4
2021
Statut:
epublish
Résumé
We report on a patient born to consanguineous parents, presenting with Growth Hormone Deficiency (GHD) and osteoporosis. SNP-array analysis and exome sequencing disclosed long contiguous stretches of homozygosity and two distinct homozygous variants in
Identifiants
pubmed: 33451138
pii: ijms22020750
doi: 10.3390/ijms22020750
pmc: PMC7828579
pii:
doi:
Substances chimiques
Collagen Type I
0
Collagen Type I, alpha 1 Chain
0
HESX1 protein, human
0
Homeodomain Proteins
0
Human Growth Hormone
12629-01-5
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
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