Results 91 to 100 of about 6,061 (174)

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

The sensory penis: A comprehensive immunohistological and ontogenetic exploration of human penile innervation

Andrology, Volume 14, Issue 3, Page 661-701, March 2026.
Abstract Background Penile sexual sensation relies on intricate neural structures that remain incompletely characterized. Immunohistological insights into their development and organization can enhance understanding of penile neuroanatomy and function, while optimizing surgical outcomes.
Alfonso Cepeda‐Emiliani, María Otero‐Alén, Juan Suárez‐Quintanilla, Marina Gándara‐Cortés, Tomás García‐Caballero, Rosalía Gallego, Lucía García‐Caballero   +6 more
wiley   +1 more source

LRP4‐Related Lethal Syndromic Form of Syndactyly in Limousin Cattle

Animal Genetics, Volume 57, Issue 2, April 2026.
Joana Jacinto, Jessica Gearing, Aurélien Capitan, Ana‐Maria Zorlescu, Arthur Otter, Cord Drögemüller   +5 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

Journal of Rare Diseases
Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands.
Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony   +5 more
doaj   +1 more source

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]

, 2005
This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M., Golalipour, M.J., Vakili, M.A.   +2 more
core  

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 985-988, April 2026.
Jana van der Westhuizen, Vicente A. Yépez, Shahida Moosa   +2 more
wiley   +1 more source

Mapping the Shh long-range regulatory domain [PDF]

, 2014
Coordinated gene expression controlled by long-distance enhancers is orchestrated by DNA regulatory sequences involving transcription factors and layers of control mechanisms.
Amano, Belloni, Bickmore, Chuong, Davis, Dixon, Echelard, Epstein, Hecksher-Sorensen, Jeong, Jeong, Klopocki, Kokubu, Lettice, Lettice, Lettice, Lettice, Lettice, Lettice, Liu, Marinić, Mates, Montavon, Nagy, Niedermaier, Osoegawa, Paek, Riddle, Ruf, Sagai, Sagai, Sagai, Sharpe, Sharpe, Shen, Smallwood, Spitz, Sun, Symmons, Symmons, The ENCODE Consortium Project, Tsukiji   +41 more
core   +2 more sources

syndactyly

Citation: 'syndactyly' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.11276 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Maria Laura Tripodi, Santiago Tomas Bosio   +1 more
openaire   +2 more sources

Goltz syndrome with absence of fifth metacarpal and distal phalanx, severe abdominal dehiscence and bladder exstrophy

Indian Journal of Paediatric Dermatology, 2016
Goltz syndrome, also known as focal dermal hypoplasia, is a rare genodermatosis. It is an X-linked dominant disorder characterized by mesoectodermal dysplasia present with cutaneous, ocular, dental, and skeletal defects.
Bharati Sahu, Smita Rani Samal, Prasenjeet Mohanty, Manas Ranjan Puhan   +3 more
doaj   +1 more source