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Clinical Dysmorphology|January 14, 2020
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletionAlessandra Pelle, Piergiorgio Modena, Anna Cavallini, et al.
Clinical Dysmorphology|January 10, 2018
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing lossAlina Henn, Harald Weng, Simon Novak, et al.
Clinical Dysmorphology|February 26, 2015
A novel KIF7 mutation in two affected siblings with acrocallosal syndromeKadri Karaer, Zafer Yuksel, Amale Ichkou, et al.
Clinical Dysmorphology|April 16, 2021
Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countriesShirisha Pulipaka, Anit Kaur, Prateek Bhatia, et al.
Clinical Dysmorphology|June 9, 2006
A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletionsGareth Baynam, Jack Goldblatt, Sharron Townshend
Clinical Dysmorphology|June 9, 2006
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndromePino Alonso, Guillem Pintos, Francisco Almazan, et al.
Clinical Dysmorphology|June 9, 2006
Neonatal teeth in X-linked Opitz (G/BBB) syndromeAdam Shaw, Cheryl Longman, Melita Irving, et al.
Clinical Dysmorphology|March 24, 2009
Milder form of pachydermoperiostosis: a report of four casesKatta Mohan Girisha, Kausik Mandal, Shubha Rajendra Phadke
Clinical Dysmorphology|March 14, 2007
Torg-Winchester syndrome: lack of efficacy of pamidronate therapyShubha R Phadke, Maria Ramirez, Analisa DiFeo, et al.
Clinical Dysmorphology|March 14, 2007
Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab familyLihadh Al-Gazali, Raveendra Nath, Durdana Iram, et al.
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