Results 181 to 190 of about 39,956 (278)

Clinical approach on skeletal dysplasia from the viewpoint of clinical genetics

, 2014
Chung, BHY
core  

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia. [PDF]

Eur J Hum Genet
Jacob P, Singh S, Bhavani GS, Gowrishankar K, Narayanan DL, Nampoothiri S, Patil SJ, Soni JP, Muranjan M, Kapoor S, Dhingra B, Bhat BV, Bajaj S, Banerjee A, Mamadapur M, Hariharan SV, Kamath N, Shenoy RD, Suri D, Shukla A, Dalal A, Phadke SR, Nishimura G, Mortier G, Shah H, Girisha KM.   +25 more
europepmc   +1 more source

Maxillofacial Cemento‐Ossifying Fibroma: A Rare Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Cemento‐ossifying fibroma is a relatively rare lesion affecting the jaws, especially the anterior mandible. The most common clinical presentation is swelling. Diagnosis based on clinical observation only is challenging. Radiological images and histological findings can be misleading due to similitudes with other osteo‐fibrous lesions.
Alix N. Kamina, Elisée Ntambua Mbombo, Patrick Badibanga, Christian Tague, Pascal Lutumba, Criss Koba Mjumbe   +5 more
wiley   +1 more source

Concurrent mutations in RNU4ATAC, PLEC, and CD96 in a child with severe short stature and skeletal dysplasia: a case report. [PDF]

Ital J Pediatr
Wang H, Wang J, Chen D.
europepmc   +1 more source

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian, Qi Zhao, Yanfang Li, Lihua Li, Zhongwei Li, Miaolian Zhang, Suihua Feng, Qiang Zhao   +7 more
wiley   +1 more source

Balancing independence: Priorities, tensions, obstacles, and facilitators for independence among young adults with skeletal dysplasia and short stature. [PDF]

J Genet Couns
Ricks SJ, Johnson J, Ayers KB, Pena LDM.
europepmc   +1 more source

Early‐Onset Mucocutaneous Findings and Isolated Progressive Thrombocytopenia in a Child With a DKC1 A353V Variant

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Dyskeratosis congenita (DC) is a rare telomere biology disorder characterized by mucocutaneous abnormalities and progressive bone marrow failure. We report a 10‐year‐old boy with a hemizygous DKC1 c.1058C > T (p.Ala353Val) variant who presented with unusually early mucocutaneous findings, including oral leukoplakia at 2 years of age, followed ...
Harun Kasapoğlu, Aslı Turgutoğlu Yılmaz, Berkin Berk Akbeyaz, Neslihan Çalışkan, Yılmaz Ay   +4 more
wiley   +1 more source

Severe pulmonary hypertension in a small-for-date neonate with skeletal dysplasia. [PDF]

BMJ Case Rep
Mohamed K, Bayoumi MAA, Rahmath MR, Elmalik EE.   +3 more
europepmc   +1 more source

Epigenetic Perspectives on Maternal Gut Microbiota's Impact on Embryonic and Fetal Development

Comprehensive Physiology, Volume 16, Issue 3, June 2026.
This review summarizes how maternal health and nutrition shape gut microbiota via epigenetics to regulate embryonic development. It highlights microbiota‐embryo interactions, disruption by prenatal chemical exposures, and personalized nutrition for disease prevention, offering novel insights and therapeutic targets.
Shoulong Xu, Yanjiao Huang, Chenyue Hu, Wenli Ding, Zhenwei Pu, Qiang Li, Zhiliang Xu   +6 more
wiley   +1 more source