Results 81 to 90 of about 16,390 (254)

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans [PDF]

, 2014
This is a freely-available open access publication. Please cite the published version which is available via the DOI link in this recordSplit-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression.
Birnbaum, Birnbaum, Christopher Wragg, Claire L S Turner, Coin, Fromer, Genuardi, Hana Lango Allen, Kouwenhoven, Krumm, Lo Iacono, Martinez, Michael N Weedon, Nord, Peter D Turnpenny, Plagnol, Richard Caswell, Robledo, Schluth-Bolard, Shamseldin, Sian Ellard, Sinasac, Spranger, Talkowski, Talkowski, Weijia Xie, Wu, Xiao Xu, Zlotogora   +28 more
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The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature

American Journal of Human Biology, Volume 38, Issue 2, February 2026.
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi, Bruno Telma Destailleur, Giulia Maesta Apelbaum, Carlos Alberto Longui, Cristiane Kochi   +4 more
wiley   +1 more source

Apert syndrome: a case report

National Journal of Clinical Anatomy, 2015
Apert syndrome was described as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. The incidence of Apert syndrome is approximately one in 50,000 births.
A Barman, B C Dutta, J K Sarkar
doaj   +1 more source

Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Monilethrix is a rare genetic disorder characterized by sparse, brittle hair, primarily affecting the scalp, although it may also affect other parts of the body. Trichorrhexis nodosa (TN) is another hair shaft disorder characterized by brittle and fragile hair shafts. Concurrence of monilethrix and TN is exceedingly rare.
Yasamin Dehghan, Mozhdeh Sepaskhah
wiley   +1 more source

Changes In angulation and phalangeal length of fingers and thumbs following surgical treatment for congenital clinodactyly [PDF]

, 2016
INTRODUCTION: Congenital clinodactyly is a condition characterized by the deviation of a digit or digits in the coronal plane. Angulation is often due to the presence of a delta phalanx.
Gordon, Alanna Alexandra
core   +1 more source

Preaxial polydactyly of the foot: Clinical and genetic implications for the orthopedic practice based on a literature review and 76 patients [PDF]

, 2017
Background and purpose — Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes.
Baas, M. (Martijn), Burger, E.B. (Elise B), Hoogeboom, A.J.M. (Jeannette), Hovius, S.E.R. (Steven), Nieuwenhoven, C.A. (Christianne) van   +4 more
core   +1 more source

Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies.
Nadia Soltani, Zahra Bayati, Mohsen Soosanabadi, Akbar Zamani, Asghar Lotfi, Milad Gholami   +5 more
wiley   +1 more source

Intellectual disability, unusual facial morphology and hand anomalies in sibs [PDF]

, 2013
Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two
Beales, PL, Chanudet, E, Hennekam, RC, Moore, GE, Palmer, R, Ramos, L, Saraiva, JM, Sousa, SB, Venâncio, M   +8 more
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CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing [PDF]

, 2016
First published: 11 July 2016Abstract not availableChristopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng,
Barnett, C., Bruno, D., Chong, C., Feng, J., Hahn, C., Klingler-Hoffmann, M., Lee, Y., Lipsett, J., Mcphee, A., Nataren, N., Schreiber, A., Schwarz, Q., Scott, H.   +12 more
core   +1 more source