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Children born small for gestational age: differential diagnosis, molecular genetic evaluation, and implications
MJJ Finken, M van der Steen, CCJ Smeets… - Endocrine …, 2018 - academic.oup.com
Children born small for gestational age (SGA), defined as a birth weight and/or length
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …
New treatments for children with achondroplasia
Achondroplasia is the most common form of dwarfism in humans, caused by a common
pathogenic variant in the gene encoding fibroblast growth factor receptor 3, FGFR3, which …
pathogenic variant in the gene encoding fibroblast growth factor receptor 3, FGFR3, which …
C-type natriuretic peptide analogue therapy in children with achondroplasia
R Savarirayan, M Irving, CA Bacino… - … England Journal of …, 2019 - Mass Medical Soc
Background Achondroplasia is a genetic disorder that inhibits endochondral ossification,
resulting in disproportionate short stature and clinically significant medical complications …
resulting in disproportionate short stature and clinically significant medical complications …
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation …
Background Since different types of genetic variants, from single nucleotide variants (SNVs)
to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use …
to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use …
Growth hormone therapy in children; research and practice–a review
Short stature remains the most common reason for referral to a pediatric Endocrinologist and
its management remains a challenge. One of the main controversies is the diagnosis of …
its management remains a challenge. One of the main controversies is the diagnosis of …
Deficiencies in corin and atrial natriuretic peptide-mediated signaling impair endochondral ossification in bone development
Z Zhou, X Mao, C Jiang, W Li, T Zhou, M Liu… - Communications …, 2024 - nature.com
Corin is a protease that activates atrial natriuretic peptide (ANP), a hormone in
cardiovascular homeostasis. Structurally, ANP is similar to C-type natriuretic peptide (CNP) …
cardiovascular homeostasis. Structurally, ANP is similar to C-type natriuretic peptide (CNP) …
Genetic short stature
Adult height and growth patterns are largely genetically programmed. Studies in twins have
indicated that the heritability of height is high (> 80%), suggesting that genetic variation is …
indicated that the heritability of height is high (> 80%), suggesting that genetic variation is …
[HTML][HTML] C-type natriuretic peptide (CNP): The cardiovascular system and beyond
C-type natriuretic peptide (CNP) represents the 'local'member of the natriuretic peptide
family, functioning in an autocrine or paracrine capacity to modulate a hugely diverse …
family, functioning in an autocrine or paracrine capacity to modulate a hugely diverse …
A state of natriuretic peptide deficiency
M Nyberg, D Terzic, TP Ludvigsen, PD Mark… - Endocrine …, 2023 - academic.oup.com
Measurement of natriuretic peptides (NPs) has proven its clinical value as biomarker,
especially in the context of heart failure (HF). In contrast, a state of partial NP deficiency …
especially in the context of heart failure (HF). In contrast, a state of partial NP deficiency …
The challenge of defining and investigating the causes of idiopathic short stature and finding an effective therapy
Idiopathic short stature (ISS) comprises a wide range of conditions associated with short
stature that elude the conventional diagnostic work-up and are often caused by still largely …
stature that elude the conventional diagnostic work-up and are often caused by still largely …