Three patients with ring (X) chromosomes and a severe phenotype.
NR Dennis, AL Collins, JA Crolla… - Journal of medical …, 1993 - jmg.bmj.com
Three patients with mosaicism and a cell line containing a small ring (X) chromosome are
described. Their phenotype is similar to several previously reported patients with a 45, X/46 …
described. Their phenotype is similar to several previously reported patients with a 45, X/46 …
Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make‐up (Niikawa‐Kuroki) syndrome
P Franceschini, MP Vardeu, A Guala… - American journal of …, 1993 - Wiley Online Library
We report on a 13½-year-old patient with Kabuki make-up syndrome and complete
idiopathic precocious puberty manifested at 7½ years. In addition to the other specific …
idiopathic precocious puberty manifested at 7½ years. In addition to the other specific …
[引用][C] Confirmation of a particular but nonspecific metacarpophalangeal pattern profile in patients with the Smith-Magenis syndrome due to interstitial deletion of 17p
P Meinecke - American journal of medical genetics, 1993 - pascal-francis.inist.fr
Confirmation of a particular but nonspecific metacarpophalangeal pattern profile in patients with
the Smith-Magenis Syndrome due to interstitial deletion of 17p CNRS Inist Pascal-Francis CNRS …
the Smith-Magenis Syndrome due to interstitial deletion of 17p CNRS Inist Pascal-Francis CNRS …