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Duplication involving bones of the feet
- ... and bones in the head and face (craniofacial bones). Research suggests that duplications involving this gene lead to higher-than-normal amounts ...
- ... females, the condition results from new (de novo) duplications involving the GPR101 gene that occur during the formation of a parent's reproductive cells (eggs or sperm). The duplication is found in all of the cells in ...
- ... ribs. They can also have abnormalities of the bones of the hands or feet, including unusually short or curved fifth (pinky) fingers ( ... Wang K, Robison R, Lyon GJ. KBG syndrome involving a single-nucleotide duplication in ANKRD11. Cold Spring Harb Mol Case Stud. ...
- ... by hearing loss caused by malformations in tiny bones in the ears (ossicles), an opening in the roof of the mouth (cleft palate), and skeletal abnormalities involving the fingers or toes (digits).The FLNA gene ...
- ... About This Health Condition Loss (deletion) or ... and mild hand and foot abnormalities. Most people with MAND also have features ...
- ... helps direct normal growth of the body's bones and tissues. The GPR101 protein is ... Genetic changes involving the GPR101 gene cause a condition called X- ...