Results 191 to 200 of about 3,413,614 (250)

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

International Consensus on the Diagnosis and Clinical Management of Idiopathic Short Stature: A Modified Delphi Method.

Horm Res Paediatr
Linglart A, Cianfarani S, Dattani MT, Jorge AAL, Lebenthal Y, Luo X, Maghnie M, Miller BS, Mizuno H, Rapaport R, Collett-Solberg PF, Dauber A.   +11 more
europepmc   +1 more source

Systematic or targeted molecular screening of SHOX gene variations in children with idiopathic short stature? [PDF]

J Endocr Soc
Pouliquen R, Schmitt S, Gueguen T, Donzeau A, Rouleau S, Emeriau F, Bouhours-Nouet N, Levaillant L, Coutant R.   +8 more
europepmc   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

Clinical Genetics, EarlyView.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul, Susanne Eriksen Boonen, Katja Venborg Pedersen, Caroline Hey Bækgaard, Martin Larsen, Maria Kibæk, Niels Illum, Malene Heideman, Christiane Nielsen, Emilie Boye Lester, Christina Fagerberg   +10 more
wiley   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

<i>De Novo ZNF292</i> Variants Cause Neurodevelopmental Disorder with Short Stature: A Clinical Case Series of Eight Individuals. [PDF]

Genes (Basel)
Shen Y, Pan R, Liu C, Zheng J, Yang X.
europepmc   +1 more source

Expanding the Biochemical Phenotype of ReNU Syndrome: A Case Report

Clinical Genetics, EarlyView.
This report detailed the clinical findings and the biochemical phenotype of a 3‐year‐old girl with ReNU syndrome. Circulating biomarkers and a muscle biopsy s uggested mild mitochondrial abnormalities. Severe plasmalogen deficiency was also observed, comparable to defects of peroxisomal plasmalogen biosynthesis.
Irene De Biase, McKall Johnson, Qinwen Mao, Vanina L. Taliercio, Stacey L. Cole   +4 more
wiley   +1 more source

Impact of idiopathic short stature on children's well-being: a nationwide study of short Danish children. [PDF]

J Endocr Soc
Juul A, Linglart A, Højby M, Leunbach TL, Pietropoli A, Lundgren KL, Jensen LF.   +6 more
europepmc   +1 more source

Anthropometric patterns in children with moderate‐to‐severe atopic dermatitis: Cross‐sectional insights from the TREATkids cohort

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and objectives The relationship between atopic dermatitis (AD), weight, height, and body mass index (BMI) in children and adolescents and the impact of systemic treatments is controversial. We report the distribution of weight, height, and BMI in the German TREATkids cohort compared to a standardized German cohort (Kromeyer‐Hauschild)
Barbara Kind, Doreen Siegels, Hagen Ott, Susanne Abraham, René Sachse, Katharina Lönnecke, Inken Harder, Annice Heratizadeh, Katja Nemat, Christian Vogelberg, Dora Stölzl, Ines Gellhaus, Susanne Lau, Mehrak Yoosefi Moridani, Thomas Werfel, Stephan Weidinger, Jochen Schmitt, the TREATgermany study group   +17 more
wiley   +1 more source