Results 31 to 40 of about 15,472 (207)
Polydactyly of the Foot Diagnosed from a Minor Nail Problem [PDF]
, 2020 Polydactyly is one of the most common foot congenital anomalies. It is often detected immediately after birth, but the diagnosis can sometimes be delayed if the symptoms are less evident.
Tsukahara, Hirokazu +4 more
core +1 more source
Idiopathic talipes equinovarus with preaxial polydactyly of the foot: a case report
Medicine Science, 2017 The aim of this study is to report an unusual combination of congenital idiopathic talipes equinovarus with preaxial polydactyly of the foot. A newborn infant was brought to the polyclinic at the age of 1 week. In the right foot, preaxial polydactyly was
Ali Tufan Pehlivan +2 more
doaj +1 more source
Frontiers in Genetics, 2022 Postaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs.
Lihong Fan +6 more
doaj +1 more source
Polydactyly: Clinical and molecular manifestations
, 2023 Polydactyly is a malformation during the development of the human limb, which is characterized by the presence of more than the normal number of fingers or toes. It is considered to be one of the most common inherited hand disorders.
Sotiriou, S. +5 more
core +1 more source
Table_4_Clinical Genetics of Polydactyly: An Updated Review.DOCX
, 2018 Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a ...
Muhammad Bilal (737265) +4 more
core +1 more source
Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell +16 more
wiley +1 more source
Table_1_Clinical Genetics of Polydactyly: An Updated Review.DOCX
, 2018 Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a ...
Muhammad Bilal (737265) +4 more
core +1 more source
Thumb Polydactyly with a Floating Ulnar Thumb [PDF]
, 2013 Thumb polydactyly is reported to be the most common congenital anomaly of the hand in Japan. The floating type is not particularly rare, accounting for 0.9 to 15% of all cases of thumb polydactyly.
Hasegawa, Kenjiro +2 more
core +1 more source
TTC21B: From Modifier to Causative Gene in Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +1 more source
Data_Sheet_1_Clinical Genetics of Polydactyly: An Updated Review.docx
, 2018 Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a ...
Muhammad Bilal (737265) +4 more
core +1 more source