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Haploinsufficiency of novelFOXG1Bvariants in a patient with severe mental retardation, brain malformations and microcephaly

✍ Scribed by Sarah A. Shoichet; Stella-Amrei Kunde; Petra Viertel; Can Schell-Apacik; Hubertus von Voss; Niels Tommerup; Hans-Hilger Ropers; Vera M. Kalscheuer


Publisher
Springer
Year
2005
Tongue
English
Weight
358 KB
Volume
117
Category
Article
ISSN
0340-6717

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## Abstract We describe the cytogenetic diagnosis using BAC‐ and oligonucleotide microarrays of a 16‐year‐old Laotian‐American female, who first presented at 2Β½ years of age with microcephaly, developmental retardation, and skeletal abnormalities of the upper limb including mild syndactyly of the s