Molecular Characterization of a Patient with an Interstitial 1q Deletion [del(1)(q23.3q25.2)] and Distinctive Skeletal Abnormalities

TY - JOUR

T1 - Molecular Characterization of a Patient with an Interstitial 1q Deletion [del(1)(q23.3q25.2)] and Distinctive Skeletal Abnormalities

AU - Descartes, et al, Maria

AU - Descartes, Maria

N1 - Here we report on a patient with an interstitial deletion on the long(q) arm of chromosome 1 who presents with a unique constellation of anomalies including brachydactyly type E, Müllerian agenesis, growth hormone deficiency, as well as other abnormalities. We present the clinical details of this pa ...

PY - 2008

Y1 - 2008

UR - https://pubmed.ncbi.nlm.nih.gov/18925675/

M3 - Article

VL - 146A

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

ER -