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Volume 29; Issue 1
Main
Clinical Dysmorphology
Volume 29; Issue 1
Clinical Dysmorphology
Volume 29; Issue 1
1
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family
Hayat, Amir
,
Khan, Atif Ahmad
,
Rauf, Abdur
,
Khan, Saad Ullah
,
Hussain, Shabir
,
Ullah, Asmat
,
Ahmad, Wasim
,
Shams, Sulaiman
,
Khan, Bushra
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 531 KB
Your tags:
2020
2
Phenotypic variability in Muenke syndrome—observations from five Danish families
Öwall, Louise
,
Kreiborg, Sven
,
Dunø, Morten
,
Hermann, Nuno V.
,
Darvann, Tron A.
,
Hove, Hanne
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 461 KB
Your tags:
2020
3
Fetal aortopulmonary window associated with urorectal malformation and common cloaca
Gowda, Mamatha
,
Reddy, Monica
,
Ramesh, Devika
,
Prasad, Srivatsa
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 205 KB
Your tags:
2020
4
A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome
Mendez, Rodrigo
,
Delea, Marisol
,
Dain, Liliana
,
Rittler, Monica
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 333 KB
Your tags:
2020
5
Microdeletion of the entire IRF6 gene in a Subsaharian African’s family with Van der Woude syndrome
Mbuyi-Musanzayi, Sébastien
,
Kasamba, Eric I.
,
Revencu, Nicole
,
Lukusa, Prosper T.
,
Kalenga, Prosper M.
,
Tshilombo, François K.
,
Reychler, Hervé
,
Devriendt, Koenraad
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 246 KB
Your tags:
2020
6
Pathologic fracture revealed a rare syndromic form of genetic lipodystrophy
Bronz, Gabriel
,
Leoni-Foglia, Corinna
,
Lava, Sebastiano G.
,
Simonetti, Giacomo D.
,
Ferrarini, Alessandra
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 487 KB
Your tags:
2020
7
A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type
Albuz, Burcu
,
Çetin, Gökhan Ozan
,
Özhan, Bayram
,
Sarikepe, Bilge
,
Anlaş, Özlem
,
Öztürk, Menekşe
,
Zeybek, Selcan
,
Sabir, Nuran
,
Bağci, Gülseren
,
Semerci Gündüz, Cavidan Nur
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 232 KB
Your tags:
2020
8
Klippel-Feil syndrome
Frikha, Rim
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 71 KB
Your tags:
2020
9
A neuromuscular disorder with homozygosity for PIEZO2 gene variants
Oakley-Hannibal, Elizabeth
,
Ghali, Neeti
,
Pope, Francis Michael
,
De Franco, Elisa
,
Ellard, Sian
,
van Dijk, Fleur S.
,
Brady, Angela F.
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 147 KB
Your tags:
2020
10
A case report of trisomy 17 mosaicism
Sherlaw-Sturrock, Charlotte A.
,
Cassidy, Geraldine
,
Glover, Kate
,
Naik, Swati
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 273 KB
Your tags:
2020
11
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene
Jurkiewicz, Dorota
,
Skórka, Agata
,
Ciara, Elżbieta
,
Kugaudo, Monika
,
Pelc, Magdalena
,
Chrzanowska, Krystyna
,
Krajewska-Walasek, Małgorzata
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 394 KB
Your tags:
2020
12
Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome
Golan-Tripto, Inbal
,
Ling, Eduard
,
Hershkovitz, Eli
,
Fruchtman, Yariv
,
Hazan, Guy
Journal:
Clinical Dysmorphology
Year:
2020
File:
PDF, 110 KB
Your tags:
2020
13
A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia
Kawano-Matsuda, Fumika
,
Shimada, Yumi
,
Omotobara-Yabe, Tomona
,
Itonaga, Tomoyo
,
Maeda, Miwako
,
Maeda, Tomoki
,
Yamaguchi, Tomomi
,
Kosho, Tomoki
,
Ihara, Kenji
Journal:
Clinical Dysmorphology
Year:
2020
Language:
english
File:
PDF, 163 KB
Your tags:
english, 2020
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