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The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature |
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| Authors: | Nolwenn Jean‐Marçais Matthieu Decamp Marion Gérard Virginie Ribault Joris Andrieux Marie‐Laure Kottler Ghislaine Plessis |
| Affiliation: | 1. Service de Génétique, H?pital Universitaire de la C?te de Nacre, Caen, France;2. Service de Pédiatrie, H?pital Universitaire de la C?te de Nacre, Caen, France;3. UFR de Médecine de Caen, Université de Caen, Caen, France;4. Laboratoire de Génétique Médicale, H?pital Universitaire Jeanne de Flandre, Lille, France;5. Correspondence to:;6. Ghislaine Plessis, Department of Genetics, Clinical Genetics, Caen University Hospital, Caen, France. E‐mail: |
| Abstract: | |
| Keywords: | 2q37 deletion HDAC4 BDMR Albright hereditary osteodystrophy‐like syndrome brachydactyly intellectual disability brachydactyly E |