Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.

Mendioroz, Jacobo

Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13. [electronic resource] - American journal of medical genetics. Part A Jun 2005 - 211-3 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4825

10.1002/ajmg.a.30728 doi


Abnormalities, Multiple--genetics
Child, Preschool
DNA Mutational Analysis
Female
Genitalia, Female--abnormalities
Hearing Loss, Sensorineural--pathology
Homeodomain Proteins--genetics
Humans
Infant
Intellectual Disability--pathology
Metacarpus--abnormalities
Metatarsal Bones--abnormalities
Mutation
Syndrome
Synostosis--pathology
Transcription Factors--genetics