Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis

A Cassim, D Hettiarachchi… - Orphanet Journal of Rare …, 2022 - Springer
The formation of the digits is a tightly regulated process. During embryogenesis, disturbance
of genetic pathways in limb development could result in syndactyly; a common congenital …

[HTML][HTML] Suppl 1: The Epidemiology, Genetics and Future Management of Syndactyly

D Jordan, S Hindocha, M Dhital, M Saleh… - The open orthopaedics …, 2012 - ncbi.nlm.nih.gov
Suppl 1: The Epidemiology, Genetics and Future Management of Syndactyly - PMC Back to
Top Skip to main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage …

The molecular genetics of human appendicular skeleton

S Ahmad, MZ Ali, M Muzammal, FA Mir… - Molecular Genetics and …, 2022 - Springer
Disorders that result from de-arrangement of growth, development and/or differentiation of
the appendages (limbs and digit) are collectively called as inherited abnormalities of human …

Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families

L Dai, D Liu, M Song, X Xu, G Xiong, K Yang, K Zhang… - PLoS …, 2014 - journals.plos.org
Background Syndactyly type 1 (SD1) is an autosomal dominant limb malformation
characterized in its classical form by complete or partial webbing between the third and …

Advances in the molecular genetics of non-syndromic syndactyly

H Deng, T Tan - Current genomics, 2015 - ingentaconnect.com
Syndactyly, webbing of adjacent digits with or without bony fusion, is one of the most
common hereditary limb malformations. It occurs either as an isolated abnormality or as a …

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21. 31

S Malik, J Schott, SW Ali, F Oeffner… - European journal of …, 2005 - nature.com
There is good evidence from the medical literature that type I syndactyly, the most common
form of the nonsyndromic syndactylies, is clinically heterogeneous. We therefore propose to …

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13. 3

S Malik, FE Percin, W Ahmad, S Percin… - American Journal of …, 2005 - Wiley Online Library
Previously we have described a novel and distinct form of non‐syndromic osseous
syndactyly segregating in an autosomal recessive pattern in a consanguineous Pakistani …

[PDF][PDF] Syndactyly genes and classification: a mini review

M Umair, F Ahmad, M Bilal, S Abbas - JBC Genetics, 2018 - researchgate.net
ABSTRACT Syndactyly (Syn= together; Dactylos= digits) is the most common limb defect
mostly characterized by webbing of digits. It may be webbing with or without bony fusion and …

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin

S Malik, M Arshad, M Amin‐ud‐Din… - American Journal of …, 2004 - Wiley Online Library
Non‐syndromic syndactylies have been classified into five major types (I–V), all showing
autosomal dominant mode of inheritance. Later, the classification was extended and three …

The FU gene and its possible protein isoforms

T Østerlund, DB Everman, RC Betz, M Mosca… - BMC genomics, 2004 - Springer
Background FU is the human homologue of the Drosophila gene fused whose product fused
is a positive regulator of the transcription factor Cubitus interruptus (Ci). Thus, FU may act as …