Genetic skeletal disorders (GSDs) constitute a heterogeneous, rare and a distinctive group
of rare bone growth disorders, leading to abnormal size and shape of the skeleton …

Isolated hypodontia is the most common human malformation. It is caused by heterozygous
variants in various genes, with heterozygous WNT10A variants being the most common …

The formation and maintenance of the apical ectodermal ridge (AER) is critical for the
outgrowth and patterning of the vertebrate limb. The induction of the AER is a complex …

Split-hand/foot malformation (SHFM) is a genetic limb anomaly disturbing the central rays of
the autopod. SHFM is a genetically heterogeneous disorder with variable expressivity …

Split-hand and foot malformation (SHFM; MIM 183600) is a rare human genetic limb
malformation. It is characterized by missing digital rays in the hands and feet. SHFMs vary in …

Ectrodactyly, or Split-Hand/Foot Malformation (SHFM), is a congenital condition
characterized by the loss of central rays of hands and feet. The p63 and the DLX5; DLX6 …

Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic
disorder. It is a clinically and genetically heterogeneous group of limb malformations …

The congenital malformation split hand/foot (SHFM) is characterized by missing central
fingers and dysmorphology or fusion of the remaining ones. Type-1 SHFM is linked to …

We report an Indian girl with split-hand/foot malformation (SHFM), sparse hair, and
interrupted eyebrows, who carries a novel homozygous deletion c. 695_697delACA in …

Aims: Split-hand/split-foot malformation (SHFM) is a developmental and congenital limb
malformation characterized by variable degrees of medial clefting or absence of one or more …