Results 81 to 90 of about 7,727 (215)

Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

Pediatric Dermatology, Volume 42, Issue 3, Page 591-595, May/June 2025.
ABSTRACT We report a patient with clinically confirmed Schimmelpenning–Feuerstein–Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients ...
Hyvönen Hanna, Kettunen Kaisa, Avela Kristiina, Kivirikko Sirpa, Jeskanen Leila, Suominen Sinikka, Salminen Päivi, Hannula‐Jouppi Katariina   +7 more
wiley   +1 more source

Heterozygous Hereditary Vitamin D‐Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis

Case Reports in Endocrinology, Volume 2025, Issue 1, 2025.
This case report is centered on an atypical presentation of Hereditary Vitamin D‐dependent Rickets 2A (VDDR2A), a rare disorder caused by defects in the gene encoding the vitamin D receptor (VDR). While this disorder is primarily autosomal recessive in inheritance, this case demonstrates that a single heterozygous variant in the VDR gene could be ...
Risa Goldberg, Gunjan Umarji, Serge Jabbour, Hyunsik Kang   +3 more
wiley   +1 more source

<p>PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country</p> [PDF]

, 2020
Jessica María Forero-Delgadillo, Daniela Cleves, Vanessa Ochoa, Hernando Londoño-Correa, Jaime Manuel Restrepo, José Antonio Nastasi-Catanese, Harry Pachajoa   +6 more
openalex   +1 more source

Orthodontic treatment in children and adolescent patients with X‐linked hypophosphatemia: A case–control study

Orthodontics &Craniofacial Research, Volume 27, Issue 5, Page 697-703, October 2024.
Abstract Objectives X‐linked hypophosphatemia (XLH) is a rare genetic disease that disturbs bone and teeth mineralization. It also affects craniofacial growth and patients with XLH often require orthodontic treatment. The aim of this study was to describe changes in the dental health of XLH children during orthodontic treatment compared with those in ...
Yann Janssens, Martin Biosse Duplan, Agnès Linglart, Anya Rothenbuhler, Catherine Chaussain, Elvire Le Norcy   +5 more
wiley   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

JIMD Reports, Volume 65, Issue 5, Page 341-353, September 2024.
Abstract Autosomal dominant Fanconi syndrome due to a GATM variant (GATM‐FS), causes accumulation of misfolded arginine‐glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM‐FS presents during childhood and progresses to end‐stage kidney disease (ESKD) in adults.
Ignacio Portales‐Castillo, Rhea Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah. Goo, Wen Zhou, Avram Z. Traum, Ariella Coler‐Reilly, Benjamin D. Humphreys, Roberto Civitelli, Harald Jüppner, Andrew L. Lundquist, Peter Seres, Andrew S. Allegretti, Saadet Mercimek‐Andrews   +15 more
wiley   +1 more source

Relationships between matrix mineralization, oxidative metabolism, and mitochondrial structure during ATDC5 murine chondroprogenitor cell line differentiation

Journal of Cellular Physiology, Volume 239, Issue 8, August 2024.
Abstract The mechanistic relationships between the progression of growth chondrocyte differentiation, matrix mineralization, oxidative metabolism, and mitochondria content and structure were examined in the ATDC5 murine chondroprogenitor cell line. The progression of chondrocyte differentiation was associated with a statistically significant (p ≤ 0.05) 
Kevin Blank, Derrick Ekanayake, Margaret Cooke, Beth Bragdon, Amira Hussein, Louis Gerstenfeld   +5 more
wiley   +1 more source

An Overview of Rickets in Children

Kidney International Reports, 2020
Rickets is a common bone disease worldwide that is associated with disturbances in calcium and phosphate homeostasis and can lead to short stature and joint deformities.
Rahul Chanchlani, Paul Nemer, Rajiv Sinha, Lena Nemer, Vinod Krishnappa, Etienne Sochett, Fayez Safadi, Rupesh Raina   +7 more
doaj   +1 more source

What goes in must come out - the small intestine modulates renal phosphate excretion [PDF]

, 2017
In a recent article in PNAS, Berndt et al. describe a novel and rapid regulation of renal phosphate excretion by phosphate instilled into the small intestine [1].
Biber, J., Murer, H., Wagner, C A.
core  

Case report:vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation [PDF]

, 2015
Vitamin D‐dependent rickets type 1 VDDR‐1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1.
Brusgaard, Klaus, Frederiksen, Anja Lisbeth, Füchtbauer, Laila, Ledaal, Pål, Nielsen, Morten Frost Munk   +4 more
core   +2 more sources